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Results for the Protein: P14770
2822110
GP9

GPIX_HUMAN RecName: Full=Platelet glycoprotein IX; Short=GP-IX; Short=GPIX; AltName: Full=Glycoprotein 9; AltName: CD_antigen=CD42a; Flags: Precursor

Known Diseases associated with this Protein:
  BERNARD-SOULIER SYNDROME (BSS)
  BERNARD-SOULIER SYNDROME, TYPE C
14
0
6
1
7
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Default View:

LRRNT - pfam01462
LRRNT - smart00013
LRRCT - smart00082


Swiss-Prot Protein: P14770
Identical to: NP_000165
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LRRNTpfam014621.3e-101950
LRRNTsmart000131.1e-111955
LRRCTsmart000824.4e-1585136

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3796130 Diseasep.ALA156THRBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_005264Diseasep.ASN61SERBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_005263Diseasep.ASP37GLYBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_024997Diseasep.CYS24ARGBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_025008Diseasep.CYS113TYRBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_024998Diseasep.LEU56PROBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_024996Diseasep.LEU7PROBernard-Soulier syndrome (BSS)
Swiss-ProtVAR_024999Diseasep.PHE71SERBernard-Soulier syndrome (BSS)
OMIM173515.0001 Diseasep.ASN45SERBERNARD-SOULIER SYNDROME, TYPE C
OMIM173515.0002 Diseasep.ASP21GLYBERNARD-SOULIER SYNDROME, TYPE C
OMIM173515.0005 Diseasep.CYS8ARGBERNARD-SOULIER SYNDROME, TYPE C
OMIM173515.0004 Diseasep.LEU40PROBERNARD-SOULIER SYNDROME, TYPE C
OMIM173515.0006 Diseasep.LEU7PROBERNARD-SOULIER SYNDROME, TYPE C
OMIM173515.0003 Diseasep.PHE55SERBERNARD-SOULIER SYNDROME, TYPE C



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