Varaico: Literature-Extracted Genetic Variants

Gene:WWC2

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
1–12 of 85 variants
4 papers
NM_024949.6
p.E398K
c.1192G>A
4 papers
NM_024949.6
p.A773S
c.2317G>T
3 papers
NM_024949.6
p.M206K
c.617T>A
3 papers
NM_024949.6
p.I259T
c.776T>C
3 papers
NM_024949.6
p.R373C
c.1117C>T
3 papers
NM_024949.6
p.A395V
c.1184C>T
3 papers
NM_024949.6
p.R401_L402del0
c.1201_1206del6
3 papers
NM_024949.6
p.H991N
c.2971C>A
3 papers
NM_024949.6
p.E1039K
c.3115G>A
2 papers
NM_024949.6
p.Q91R
c.272A>G
2 papers
NM_024949.6
p.L149Splc
c.445+2T>C
2 papers
NM_024949.6
p.D293delFs
c.877_878delGA
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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."