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Results for the Protein: P11362
120046

FGFR1_HUMAN RecName: Full=Fibroblast growth factor receptor 1; Short=FGFR-1; AltName: Full=Basic fibroblast growth factor receptor 1; Short=BFGFR; Short=bFGF-R-1; AltName: Full=Fms-like tyrosine kinase 2; Short=FLT-2; AltName: Full=N-sam; AltName: Full=Proto-oncogene c-Fgr; AltName: CD_antigen=CD331; Flags: Precursor

Known Diseases associated with this Protein:
  HARTSFIELD SYNDROME
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (HH2)
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY
  HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
  JACKSON-WEISS SYNDROME, INCLUDED
  OSTEOGLOPHONIC DYSPLASIA
  OSTEOGLOPHONIC DYSPLASIA (OGD)
  PFEIFFER SYNDROME
  PFEIFFER SYNDROME (PS)
  TO
  TRIGONOCEPHALY 1
  TRIGONOCEPHALY 1 (TRIGNO1)
92
9
30
0
71
Tips:
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Default View:

I-set - pfam07679
IG_like - smart00410
IG - smart00409
IGc2 - smart00408
V-set - pfam07686
STYKc - smart00221
Pkinase_Tyr - pfam07714
TyrKc - smart00219
S_TKc - smart00220
KIND - smart00750


Swiss-Prot Protein: P11362
Identical to: NP_075598
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
I-setpfam076797.5e-0538118
IGsmart004092.1e-0740119
IG_likesmart004102.1e-0740119
IGc2smart004082.6e-1447108
I-setpfam076799.5e-10159247
IGsmart004094.6e-13163248
IG_likesmart004104.6e-13163248
IGc2smart004083.9e-10170237
I-setpfam076792.3e-07259358
IGsmart004093.1e-17262359
IG_likesmart004103.1e-17262359
V-setpfam076860.0005264358
IGc2smart004089.2e-11269348
Pkinase_Tyrpfam077146.7e-160478754
TyrKcsmart002196e-169478754
STYKcsmart002218.1e-70478756
S_TKcsmart002204.4e-69488758
KINDsmart007500.00066595764

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069294Diseasep.ALA671PROHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_017887Diseasep.ALA167SERHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030995Diseasep.ALA520THRHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030990Diseasep.ALA343VALHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030970Diseasep.ARG78CYSHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_019292Polymorphismp.ARG822CYSN/A
Swiss-ProtVAR_069291Diseasep.ARG250GLNHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030981Diseasep.ARG254GLNHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030999Diseasep.ARG622GLNHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030998Diseasep.ARG622GLYHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_069292Diseasep.ARG470LEUHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_019290Polymorphismp.ARG22SERN/A
Swiss-ProtVAR_030980Diseasep.ARG250TRPHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030987Diseasep.ASN330ILEOsteoglophonic dysplasia (OGD)
Swiss-ProtVAR_031007Diseasep.ASN724LYSHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030969Polymorphismp.ASN77LYSN/A
Swiss-ProtVAR_069288Diseasep.ASN117SERHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030973Diseasep.ASP129ALAHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030976Diseasep.ASP224HISHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_069959Diseasep.ASP768TYRHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030994Diseasep.CYS381ARGOsteoglophonic dysplasia (OGD)
Swiss-ProtVAR_030971Diseasep.CYS101PHEHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030974Diseasep.CYS178SERHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_017888Diseasep.CYS277TYRHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030984Diseasep.GLU274GLYHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_069958Diseasep.GLU692GLYHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_069957Diseasep.GLU670LYSHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_069955Diseasep.GLY348ARGHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_031001Diseasep.GLY687ARGHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_031003Diseasep.GLY703ARGHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_019291Polymorphismp.GLY818ARGN/A
Swiss-ProtVAR_030977Diseasep.GLY237ASPHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030982Diseasep.GLY270ASPHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_017885Diseasep.GLY97ASPHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030978Diseasep.GLY237SERHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030968Diseasep.GLY48SERHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_031004Diseasep.GLY703SERHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030997Diseasep.HIS621ARGHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_031002Diseasep.ILE693PHEHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_069290Diseasep.ILE239THRHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030986Diseasep.ILE300THRTrigonocephaly 1 (TRIGNO1)
Swiss-ProtVAR_030996Diseasep.ILE538VALHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030979Diseasep.LEU245PROHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_069954Diseasep.LEU342SERHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_031009Polymorphismp.LEU769VALN/A
Swiss-ProtVAR_069293Diseasep.LYS618ASNHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_017891Diseasep.MET719ARGHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_004111Diseasep.PRO252ARGPfeiffer syndrome (PS)
Swiss-ProtVAR_030985Diseasep.PRO283ARGHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_031005Diseasep.PRO722HISHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030992Diseasep.PRO366LEUHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_031006Diseasep.PRO722SERHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_031008Diseasep.PRO745SERHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_017892Diseasep.PRO772SERHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_042202Polymorphismp.PRO252THRN/A
Swiss-ProtVAR_069956Diseasep.PRO483THRHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030988Diseasep.SER332CYSHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030991Diseasep.SER346CYSHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_042201Polymorphismp.SER125LEUN/A
Swiss-ProtVAR_031000Diseasep.SER685PHEHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_017890Diseasep.TRP666ARGHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030975Polymorphismp.TRP213GLYN/A
Swiss-ProtVAR_069289Diseasep.TYR228ASPHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030989Diseasep.TYR339CYSHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030993Diseasep.TYR374CYSOsteoglophonic dysplasia (OGD)
Swiss-ProtVAR_017886Diseasep.TYR99CYSHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_030972Diseasep.VAL102ILEHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_031010Diseasep.VAL795ILEHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_042203Polymorphismp.VAL664LEUN/A
Swiss-ProtVAR_030983Diseasep.VAL273METHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-ProtVAR_017889Diseasep.VAL607METHypogonadotropic hypogonadism 2 with or without anosmia (HH2)
OMIM136350.0007 Diseasep.ALA134SERHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
OMIM136350.0025 Diseasep.ARG219GLNHYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0016 Diseasep.ARG439LEUHYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0018 Diseasep.ARG578TERHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0004 Diseasep.ARG591TERHYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO
OMIM136350.0009 Diseasep.ASN299ILEOSTEOGLOPHONIC DYSPLASIA
OMIM136350.0014 Diseasep.ASN693LYSHYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0032 Diseasep.ASP592TYRHARTSFIELD SYNDROME
OMIM136350.0024 Diseasep.ASP737TYRHYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0010 Diseasep.CYS348ARGOSTEOGLOPHONIC DYSPLASIA
OMIM136350.0012 Diseasep.CYS350ARGOSTEOGLOPHONIC DYSPLASIA
OMIM136350.0030 Diseasep.CYS694TYRHARTSFIELD SYNDROME
OMIM136350.0023 Diseasep.GLN733HISHYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
OMIM136350.0015 Diseasep.GLN649TERHYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
OMIM136350.0028 Diseasep.GLU661GLYHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0029 Diseasep.GLU639LYSHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0026 Diseasep.GLY317ARGHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0020 Diseasep.GLY15SERHYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
OMIM136350.0013 Diseasep.GLY206SERHYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO
OMIM136350.0011 Diseasep.ILE269THRTRIGONOCEPHALY 1
OMIM136350.0031 Diseasep.LEU132SERHARTSFIELD SYNDROME
OMIM136350.0017 Diseasep.LEU311SERHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0001 Diseasep.PRO221ARGPFEIFFER SYNDROME||JACKSON-WEISS SYNDROME, INCLUDED
OMIM136350.0014 Diseasep.PRO691HISHYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0021 Diseasep.PRO335LEUHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0022 Diseasep.PRO691SERHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
OMIM136350.0027 Diseasep.PRO452THRHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0003 Diseasep.TRP635ARGHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM136350.0008 Diseasep.TYR341CYSOSTEOGLOPHONIC DYSPLASIA
OMIM136350.0005 Diseasep.VAL576METHYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO



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