Varaico: Literature-Extracted Genetic Variants

Gene:STAP1
Variant:p.M200I

STAP1

59 papers

RefSeq Summary

The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This p...

Pfam Domains

PHaa 26–172UCSCPH domain
SH2aa 179–255UCSCSH2 domain

Gene Aliases

HGNC Name

signal transducing adaptor family member 1

HGNC Alias Symbols

STAP-1; BRDG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012108.4
p.M200I
c.600G>T
Surrounding Variants
1 paper
NM_012108.4
p.M200I
c.600G>A
1 paper
NM_012108.4
p.M200I
c.600G>C
1 paper
NM_012108.4
p.M200T
c.599T>C
2 papers
NM_012108.4
p.N199S
c.596A>G
1 paper
NM_012108.4
p.N199fs
c.595_596fs
1 paper
NM_012108.4
p.N199insFs
c.596dupA
1 paper
NM_012108.4
p.G198R
c.592G>A
1 paper
NM_012108.4
p.G198R
c.592G>C
1 paper
NM_012108.4
p.P204T
c.610C>A
1 paper
NM_012108.4
p.S196Y
c.587C>A
1 paper
NM_012108.4
p.S196F
c.587C>T
8 papers
NM_012108.4
p.D207N
c.619G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."