Varaico: Literature-Extracted Genetic Variants

Gene:WAC
Variant:p.L59V

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
1 paper
NM_016628.5
p.L59V
c.175T>G
Surrounding Variants
1 paper
NM_016628.5
p.K57Q
c.169A>C
1 paper
NM_016628.5
p.N56delFs
c.167delA
1 paper
NM_016628.5
p.D63N
c.187G>A
1 paper
NM_016628.5
p.N67N
c.201C>T
1 paper
NM_016628.5
p.K68delFs
c.202delA
1 paper
NM_016628.5
p.K68fs
c.202_203fs
1 paper
NM_016628.5
p.G50*
c.148G>T
1 paper
NM_016628.5
p.R47Q
c.140G>A
1 paper
NM_016628.5
p.R47G
c.139C>G
8 papers
NM_016628.5
p.R47*
c.139C>T
1 paper
NM_016628.5
p.T73delFs
c.217delA
1 paper
NM_016628.5
p.G74R
c.220G>C
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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."