Varaico: Literature-Extracted Genetic Variants

Gene:WASF3
Variant:p.P305delFs

WASF3

72 papers

RefSeq Summary

This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occur...

Pfam Domains

SCAR_helicalaa 28–86UCSCSCAR helical domain
WAVE5_2ndaa 115–156UCSCWAVE5 second domain
WH2aa 437–464UCSCWH2 motif

Gene Aliases

HGNC Name

WASP family member 3

HGNC Alias Symbols

WAVE3; SCAR3; KIAA0900

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006646.6
p.P305delFs
c.913delC
Surrounding Variants
3 papers
NM_006646.6
p.P307insFs
c.920dupC
1 paper
NM_006646.6
p.P307fs
c.919_920fs
2 papers
NM_006646.6
p.P308fs
c.922_923fs
1 paper
NM_006646.6
p.P308fs
c.922_923fs
1 paper
NM_006646.6
p.P310fs
c.928_929fs
1 paper
NM_006646.6
p.P310A
c.928C>G
1 paper
NM_006646.6
p.A312P
c.934G>C
1 paper
NM_006646.6
p.R287insFs
c.860_861insG
1 paper
NM_006646.6
p.Y286F
c.857A>T
1 paper
NM_006646.6
p.Y327F
c.980A>T
1 paper
NM_006646.6
p.G328R
c.982G>A
1 paper
NM_006646.6
p.G328R
c.982G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."