Varaico: Literature-Extracted Genetic Variants

Gene:WASF3
Variant:p.D244N

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
1 paper
NM_006646.6
p.D244N
c.730G>A
Surrounding Variants
2 papers
NM_006646.6
p.Y248F
c.743A>T
1 paper
NM_006646.6
p.Y250F
c.749A>T
1 paper
NM_006646.6
p.H256P
c.767A>C
1 paper
NM_006646.6
p.L258V
c.772C>G
1 paper
NM_006646.6
p.H259P
c.776A>C
1 paper
NM_006646.6
p.P262L
c.785C>T
1 paper
NM_006646.6
p.Y267F
c.800A>T
1 paper
NM_006646.6
p.A269S
c.805G>T
1 paper
NM_006646.6
p.Y286F
c.857A>T
1 paper
NM_006646.6
p.R287insFs
c.860_861insG
3 papers
NM_006646.6
p.P307insFs
c.920dupC
3 papers
NM_006646.6
p.P305delFs
c.913delC
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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."