Varaico: Literature-Extracted Genetic Variants

Gene:STAP1
Variant:p.P176S

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
10 papers
NM_012108.4
p.P176S
c.526C>T
Surrounding Variants
1 paper
NM_012108.4
p.A177V
c.530C>T
1 paper
NM_012108.4
p.A177Splc
c.530+11A>G
1 paper
NM_012108.4
p.A177Splc
c.530+13T>A
1 paper
NM_012108.4
p.P164T
c.490C>A
1 paper
NM_012108.4
p.E161E
c.483G>A
1 paper
NM_012108.4
p.E161delFs
c.482delA
1 paper
NM_012108.4
p.S157S
c.471C>T
1 paper
NM_012108.4
p.A177Splc
c.530+60A>G
1 paper
NM_012108.4
p.I150del1
c.448_449delATT
2 papers
NM_012108.4
p.L138L
c.414G>C
2 papers
NM_012108.4
p.N127N
c.381C>T
1 paper
NM_012108.4
p.E121_L122Splc
c.364-1G>A
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