Varaico: Literature-Extracted Genetic Variants

Gene:WASF2
Variant:p.P400del1

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.P400del1
c.1198_1199delCGG
Surrounding Variants
2 papers
NM_006990.5
p.P399_P400del2
c.1195_1199del6
3 papers
NM_006990.5
p.P399_P400del1
c.1197_1199delGGA
1 paper
NM_006990.5
p.P400S
c.1198C>T
1 paper
NM_006990.5
p.P402L
c.1205C>T
1 paper
NM_006990.5
p.P391A
c.1171C>G
1 paper
NM_006990.5
p.A390G
c.1169C>G
1 paper
NM_006990.5
p.G388fs
c.1162_1163fs
1 paper
NM_006990.5
p.G388R
c.1162G>C
1 paper
NM_006990.5
p.G388R
c.1162G>A
1 paper
NM_006990.5
p.T387_G388insFs
c.1161_1162insC
1 paper
NM_006990.5
p.P379S
c.1135C>T
1 paper
NM_006990.5
p.A363D
c.1088C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."