Varaico: Literature-Extracted Genetic Variants

Gene:WASF3
Variant:p.I185T

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.I185T
c.554T>C
Surrounding Variants
1 paper
NM_006646.6
p.R184C
c.550C>T
1 paper
NM_006646.6
p.E204*
c.610G>T
1 paper
NM_006646.6
p.W205*
c.614G>A
1 paper
NM_006646.6
p.W205*
c.615G>A
1 paper
NM_006646.6
p.M208_R215del0
c.624_644del21
1 paper
NM_006646.6
p.Y210F
c.629A>T
1 paper
NM_006646.6
p.L220F
c.660G>C
1 paper
NM_006646.6
p.L220F
c.660G>T
1 paper
NM_006646.6
p.S223C
c.667A>T
1 paper
NM_006646.6
p.Y225F
c.674A>T
1 paper
NM_006646.6
p.S230S
c.690C>T
1 paper
NM_006646.6
p.E231K
c.691G>A
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