Varaico: Literature-Extracted Genetic Variants

Gene:STAP1
Variant:p.R50delFs

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.R50delFs
c.150delA
Surrounding Variants
1 paper
NM_012108.4
p.T47K
c.140C>A
4 papers
NM_012108.4
p.T47A
c.139A>G
1 paper
NM_012108.4
p.W46L
c.137G>T
1 paper
NM_012108.4
p.E43_H44insCTG
c.127_131ins9
1 paper
NM_012108.4
p.D59N
c.175G>A
1 paper
NM_012108.4
p.I64_Y65Splc
c.192+10T>C
1 paper
NM_012108.4
p.I64_Y65Splc
c.193-12T>C
5 papers
NM_012108.4
p.L69S
c.206T>C
5 papers
NM_012108.4
p.I71T
c.212T>C
1 paper
NM_012108.4
p.T78I
c.233C>T
1 paper
NM_012108.4
p.C87R
c.259T>C
7 papers
NM_012108.4
p.E97D
c.291G>C
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