Varaico: Literature-Extracted Genetic Variants

Gene:WASF3
Variant:p.S415L

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
2 papers
NM_006646.6
p.S415L
c.1244C>T
Surrounding Variants
2 papers
NM_006646.6
p.G411R
c.1231G>A
2 papers
NM_006646.6
p.G411R
c.1231G>C
1 paper
NM_006646.6
p.P404L
c.1211C>T
1 paper
NM_006646.6
p.A427V
c.1280C>T
1 paper
NM_006646.6
p.P401L
c.1202C>T
1 paper
NM_006646.6
p.R429Q
c.1286G>A
1 paper
NM_006646.6
p.I437V
c.1309A>G
1 paper
NM_006646.6
p.I437M
c.1311C>G
1 paper
NM_006646.6
p.R441Q
c.1322G>A
1 paper
NM_006646.6
p.R441L
c.1322G>T
1 paper
NM_006646.6
p.G389R
c.1165G>A
1 paper
NM_006646.6
p.P386L
c.1157C>T
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