Varaico: Literature-Extracted Genetic Variants

Gene:WWC2
Variant:p.D293delFs

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
2 papers
NM_024949.6
p.D293delFs
c.877_878delGA
Surrounding Variants
3 papers
NM_024949.6
p.I259T
c.776T>C
1 paper
NM_024949.6
p.I232fs
c.694_695fs
1 paper
NM_024949.6
p.E214K
c.640G>A
3 papers
NM_024949.6
p.M206K
c.617T>A
1 paper
NM_024949.6
p.M206L
c.616A>C
1 paper
NM_024949.6
p.M206L
c.616A>T
1 paper
NM_024949.6
p.M206fs
c.616_617fs
2 papers
NM_024949.6
p.A333P
c.997G>C
1 paper
NM_024949.6
p.E343K
c.1027G>A
1 paper
NM_024949.6
p.E352Q
c.1054G>C
3 papers
NM_024949.6
p.R373C
c.1117C>T
1 paper
NM_024949.6
p.E384Q
c.1150G>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."