Varaico: Literature-Extracted Genetic Variants

Gene:WWC2
Variant:p.V673I

WWC2

69 papers

RefSeq Summary

This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs,...

Pfam Domains

WWaa 12–41UCSCWW domain
WWaa 59–88UCSCWW domain
WWC1aa 300–434UCSCWWC1-like, helical hairpin

Gene Aliases

HGNC Name

WW and C2 domain containing 2

HGNC Alias Symbols

BOMB; FLJ22029

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024949.6
p.V673I
c.2017G>A
Surrounding Variants
1 paper
NM_024949.6
p.S659L
c.1976C>T
1 paper
NM_024949.6
p.E639fs
c.1915_1916fs
1 paper
NM_024949.6
p.M716L
c.2146A>C
1 paper
NM_024949.6
p.M716L
c.2146A>T
1 paper
NM_024949.6
p.I730M
c.2190A>G
2 papers
NM_024949.6
p.V736Splc
c.2207+5G>A
2 papers
NM_024949.6
p.D637Splc
c.1909+2T>G
1 paper
NM_024949.6
p.T635I
c.1904C>T
1 paper
NM_024949.6
p.E601K
c.1801G>A
1 paper
NM_024949.6
p.A583V
c.1748C>T
1 paper
NM_024949.6
p.T567M
c.1700C>T
1 paper
NM_024949.6
p.P557L
c.1670C>T
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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."