Varaico: Literature-Extracted Genetic Variants

Gene:WASF2
Variant:p.Y150F

WASF2

85 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 27–85UCSCSCAR helical domain
WAVE5_2ndaa 114–155UCSCWAVE5 second domain
WH2aa 433–460UCSCWH2 motif

Gene Aliases

HGNC Name

WASP family member 2

HGNC Alias Symbols

WAVE2; SCAR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006990.5
p.Y150F
c.449A>T
Surrounding Variants
2 papers
NM_006990.5
p.Y150D
c.448T>G
1 paper
NM_006990.5
p.T151S
c.451A>T
1 paper
NM_006990.5
p.T151I
c.452C>T
1 paper
NM_006990.5
p.R140M
c.419G>T
1 paper
NM_006990.5
p.K161N
c.483G>T
1 paper
NM_006990.5
p.K161N
c.483G>C
1 paper
NM_006990.5
p.E204Q
c.610G>C
1 paper
NM_006990.5
p.S222S
c.666T>A
1 paper
NM_006990.5
p.G223Splc
c.668+1G>A
1 paper
NM_006990.5
p.T137I
c.410C>T
2 papers
NM_006990.5
p.L133_N134delFs
c.399_400delTG
1 paper
NM_006990.5
p.Y124D
c.370T>G
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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."