Varaico: Literature-Extracted Genetic Variants

Gene:WAC
Variant:p.Q582H

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.Q582H
c.1746G>C
Surrounding Variants
1 paper
NM_016628.5
p.Q582H
c.1746G>T
3 papers
NM_016628.5
p.Q582_A583Splc
c.1746+1G>A
1 paper
NM_016628.5
p.Q582*
c.1744C>T
1 paper
NM_016628.5
p.K581R
c.1742A>G
6 papers
NM_016628.5
p.W574*
c.1722G>A
6 papers
NM_016628.5
p.W574*
c.1721G>A
1 paper
NM_016628.5
p.V571I
c.1711G>A
1 paper
NM_016628.5
p.H570fs
c.1708_1709fs
1 paper
NM_100486.4
p.K466R
c.1397A>G
1 paper
NM_016628.5
p.K569insFs
c.1707dupA
1 paper
NM_016628.5
p.F563delFs
c.1689delC
1 paper
NM_016628.5
p.F563fs
c.1687_1688fs
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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."