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Results for the Protein: Q9Y2I7
300669693

FYV1_HUMAN RecName: Full=1-phosphatidylinositol 3-phosphate 5-kinase; Short=Phosphatidylinositol 3-phosphate 5-kinase; AltName: Full=FYVE finger-containing phosphoinositide kinase; AltName: Full=PIKfyve; AltName: Full=Phosphatidylinositol 3-phosphate 5-kinase type III; Short=PIPkin-III; Short=Type III PIP kinase

Known Diseases associated with this Protein:
  CORNEAL DYSTROPHY, FLECK (CFD)
  FLECK CORNEAL DYSTROPHY
3
8
2
6
3
Tips:
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Default View:

FYVE - smart00064
FYVE - pfam01363
FYVE - cd00065
DEP_GPR155 - cd04443
DEP_DEPDC5-like - cd04449
DEP_Epac - cd04437
DEP_1_P-Rex - cd04439
DEP - cd04371
DEP_PIKfyve - cd04448
DEP_1_DEP6 - cd04442
DEP - smart00049
DEP - pfam00610
Cpn60_TCP1 - pfam00118
cpn60 - cd03343
TCP1_gamma - cd03337
chaperonin_type_I_II - cd00309
TCP1_alpha - cd03335
chaperonin_like - cd03333
Fab1_TCP - cd03334
MSS4 - COG5253
PIPKc - cd00139
PIPKc - smart00330
PIP5K - pfam01504


Swiss-Prot Protein: Q9Y2I7
Identical to: NP_055855
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DEP_GPR155cd044430.00031354438
DEP_DEPDC5-likecd044494.6e-05355438
DEP_1_P-Rexcd044391.5e-08356438
DEP_Epaccd044375.9e-07356473
DEPcd043713.6e-26357437
DEP_PIKfyvecd044481.4e-64357438
DEP_1_DEP6cd044425.9e-08361438
cpn60cd033430.00015547928
TCP1_gammacd033371.3e-09561928
chaperonin_type_I_IIcd003090.00012565918
TCP1_alphacd033350.0006600915
Fab1_TCPcd033341.8e-164617877
chaperonin_likecd033333.8e-66617869
PIPKccd001397.4e-16517722085
FYVEpfam013639.6e-25153219
DEPpfam006105.3e-20368438
Cpn60_TCP1pfam001180.00023521940
MSS4COG52534.4e-2013992098
PIP5Kpfam015041.9e-9318472084
FYVEsmart000643e-18152219
DEPsmart000491e-27365440
PIPKcsmart003309.6e-15717912084

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_057099Polymorphismp.ARG1858GLNN/A
dbSNPrs893254 Polymorphismp.GLN995LEUN/A
dbSNPrs1529979 Polymorphismp.GLN1183LYSN/A
dbSNPrs2363468 Polymorphismp.LEU932SERN/A
Swiss-ProtVAR_025309Diseasep.LYS1103ARGCorneal dystrophy, fleck (CFD)
dbSNPrs16840913 Polymorphismp.MET617VALN/A
dbSNPrs999890 Polymorphismp.SER1033ALAN/A
Swiss-ProtVAR_063406Polymorphismp.SER696ASNN/A
dbSNPrs893253 Polymorphismp.THR998SERN/A
OMIM609414.0002 Diseasep.GLN988TERFLECK CORNEAL DYSTROPHY
OMIM609414.0001 Diseasep.LYS1103ARGFLECK CORNEAL DYSTROPHY



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