Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.E31delFs

WAS

1,038 papers

RefSeq Summary

The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The pre...

Pfam Domains

WH1aa 36–145UCSCWH1 domain
PBDaa 237–296UCSCP21-Rho-binding domain
WH2aa 427–454UCSCWH2 motif

Gene Aliases

HGNC Name

WASP actin nucleation promoting factor

HGNC Previous Symbols

IMD2; THC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000377.3
p.E31delFs
c.91delG
Surrounding Variants
1 paper
NM_000377.3
p.H30L
c.89A>T
40 papers
NM_000377.3
p.E31K
c.91G>A
2 papers
NM_000377.3
p.E31G
c.92A>G
3 papers
NM_000377.3
p.E31V
c.92A>T
1 paper
NM_000377.3
p.E31delFs
c.93delG
1 paper
NM_000377.3
p.H30_E31insT
c.88_92ins3
1 paper
NM_000377.3
p.E31E
c.93G>A
1 paper
NM_000377.3
p.E31D
c.93G>C
1 paper
NM_000377.3
p.E31D
c.93G>T
1 paper
NM_000377.3
p.N32Y
c.94A>T
3 papers
NM_000377.3
p.H30del1
c.88_89delCAC
6 papers
NM_000377.3
p.Q33*
c.97C>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."