Varaico: Literature-Extracted Genetic Variants

Gene:STAP1

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
1–12 of 80 variants
10 papers
NM_012108.4
p.P176S
c.526C>T
8 papers
NM_012108.4
p.D207N
c.619G>A
7 papers
NM_012108.4
p.E97D
c.291G>C
7 papers
NM_012108.4
p.E97D
c.291G>T
6 papers
NM_012108.4
p.R12H
c.35G>A
5 papers
NM_012108.4
p.L69S
c.206T>C
5 papers
NM_012108.4
p.I71T
c.212T>C
4 papers
NM_012108.4
p.T47A
c.139A>G
3 papers
NM_012108.4
p.R40_E41Splc
c.120+6T>C
2 papers
NM_012108.4
p.I34M
c.102C>G
2 papers
NM_012108.4
p.T118T
c.354A>G
2 papers
NM_012108.4
p.N127N
c.381C>T
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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."