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Results for the Protein: Q69YQ0
300669640

CYTSA_HUMAN RecName: Full=Cytospin-A; AltName: Full=Renal carcinoma antigen NY-REN-22; AltName: Full=Sperm antigen with calponin homology and coiled-coil domains 1-like; Short=SPECC1-like protein

Known Diseases associated with this Protein:
  FACIAL CLEFTING, OBLIQUE, 1 (OBLFC1)
1
6
0
0
7
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Default View:

CH - cd00014
CH - pfam00307
CH - smart00033
CAMSAP_CH - pfam11971


Swiss-Prot Protein: Q69YQ0
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHpfam003073e-2910121116
CHsmart000336.3e-1810131111
CAMSAP_CHpfam119718.8e-0510211096

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060448Polymorphismp.ASP301GLYN/A
Swiss-ProtVAR_066873Diseasep.GLN415PROFacial clefting, oblique, 1 (OBLFC1)
Swiss-ProtVAR_060449Polymorphismp.SER712PHEN/A
Swiss-ProtVAR_060450Polymorphismp.THR717ALAN/A
Swiss-ProtVAR_066872Polymorphismp.THR190METN/A
Swiss-ProtVAR_060451Polymorphismp.VAL943ALAN/A
Swiss-ProtVAR_060452Polymorphismp.VAL951METN/A



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