Varaico: Literature-Extracted Genetic Variants

Gene:WASF3
Variant:p.E49*

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.E49*
c.145G>T
Surrounding Variants
1 paper
NM_006646.6
p.D50E
c.150C>G
1 paper
NM_006646.6
p.Y63F
c.188A>T
1 paper
NM_006646.6
p.V78I
c.232G>A
2 papers
NM_006646.6
p.T86A
c.256A>G
1 paper
NM_006646.6
p.K102Q
c.304A>C
1 paper
NM_006646.6
p.S104T
c.310T>A
1 paper
NM_006646.6
p.N115_S116delFs
c.343_346del4
1 paper
NM_006646.6
p.Y125F
c.374A>T
1 paper
NM_006646.6
p.N126I
c.377A>T
1 paper
NM_006646.6
p.D129H
c.385G>C
1 paper
NM_006646.6
p.P131L
c.392C>T
1 paper
NM_006646.6
p.P132L
c.395C>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."