Varaico: Literature-Extracted Genetic Variants

Gene:WAC
Variant:p.R47*

WAC

95 papers

RefSeq Summary

The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins conta...

Pfam Domains

WWaa 131–160UCSCWW domain

Gene Aliases

HGNC Name

WW domain containing adaptor with coiled-coil

HGNC Alias Symbols

Wwp4; FLJ31290; PRO1741; BM-016; MGC10753

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_016628.5
p.R47*
c.139C>T
Surrounding Variants
1 paper
NM_016628.5
p.R47G
c.139C>G
1 paper
NM_016628.5
p.R47Q
c.140G>A
1 paper
NM_016628.5
p.E44_K45insFs
c.132_133dupAA
1 paper
NM_016628.5
p.G50*
c.148G>T
1 paper
NM_016628.5
p.H43_E44delFs
c.128_131del4
1 paper
NM_016628.5
p.R42fs
c.124_125fs
1 paper
NM_016628.5
p.R42_H43delFs
c.124_127del4
1 paper
NM_016628.5
p.N56delFs
c.167delA
1 paper
NM_016628.5
p.S38fs
c.112_113fs
3 papers
NM_016628.5
p.S38fs
c.112_113fs
4 papers
NM_016628.5
p.S38delFs
c.112delA
1 paper
NM_016628.5
p.K57Q
c.169A>C
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