Varaico: Literature-Extracted Genetic Variants

Gene:STAP1
Variant:p.R12H

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
6 papers
NM_012108.4
p.R12H
c.35G>A
Surrounding Variants
1 paper
NM_012108.4
p.P11T
c.31C>A
1 paper
NM_012108.4
p.Q16*
c.46C>T
1 paper
NM_012108.4
p.P7S
c.19C>T
1 paper
NM_012108.4
p.P6insFs
c.16dupC
1 paper
NM_012108.4
p.K4K
c.12G>A
1 paper
NM_012108.4
p.M2K
c.5T>A
1 paper
NM_012108.4
p.M1T
c.2T>C
1 paper
NM_012108.4
p.F31Y
c.92T>A
2 papers
NM_012108.4
p.I34M
c.102C>G
3 papers
NM_012108.4
p.R40_E41Splc
c.120+6T>C
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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."