Varaico: Literature-Extracted Genetic Variants

Gene:WASF3
Variant:p.S361C

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.S361C
c.1081A>T
Surrounding Variants
1 paper
NM_006646.6
p.V360I
c.1078G>A
1 paper
NM_006646.6
p.T357P
c.1069A>C
1 paper
NM_006646.6
p.P370P
c.1110G>A
1 paper
NM_006646.6
p.P349S
c.1045C>T
1 paper
NM_006646.6
p.P345S
c.1033C>T
1 paper
NM_006646.6
p.T378R
c.1133C>G
1 paper
NM_006646.6
p.T378M
c.1133C>T
1 paper
NM_006646.6
p.P343_P346del4
c.1027_1037del12
1 paper
NM_006646.6
p.A381G
c.1142C>G
1 paper
NM_006646.6
p.P383L
c.1148C>T
2 papers
NM_006646.6
p.Y337F
c.1010A>T
1 paper
NM_006646.6
p.P386L
c.1157C>T
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