Varaico: Literature-Extracted Genetic Variants

Gene:WASF2
Variant:p.C14_R15insFs

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.C14_R15insFs
c.40_43dup4
Surrounding Variants
1 paper
NM_006990.5
p.R15C
c.43C>T
1 paper
NM_006990.5
p.Q16R
c.47A>G
1 paper
NM_006990.5
p.S20C
c.58A>T
1 paper
NM_006990.5
p.Q39E
c.115C>G
1 paper
NM_006990.5
p.K45R
c.134A>G
1 paper
NM_006990.5
p.A47G
c.140C>G
1 paper
NM_006990.5
p.D49H
c.145G>C
1 paper
NM_006990.5
p.A58T
c.172G>A
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