Varaico: Literature-Extracted Genetic Variants

Gene:WASF2
Variant:p.P344S

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
1 paper
NM_006990.5
p.P344S
c.1030C>T
Surrounding Variants
1 paper
NM_006990.5
p.S343A
c.1027T>G
2 papers
NM_006990.5
p.T346A
c.1036A>G
1 paper
NM_006990.5
p.P349P
c.1047A>G
1 paper
NM_006990.5
p.S351A
c.1051T>G
1 paper
NM_006990.5
p.S351L
c.1052C>T
1 paper
NM_006990.5
p.H358H
c.1074C>T
1 paper
NM_006990.5
p.A363D
c.1088C>A
1 paper
NM_006990.5
p.P323P
c.969G>A
1 paper
NM_006990.5
p.G315R
c.943G>C
1 paper
NM_006990.5
p.G315R
c.943G>A
1 paper
NM_006990.5
p.K313*
c.937A>T
1 paper
NM_006990.5
p.P379S
c.1135C>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."