Varaico: Literature-Extracted Genetic Variants

Gene:WWC2
Variant:p.A808P

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.A808P
c.2422G>C
Surrounding Variants
1 paper
NM_024949.6
p.V816F
c.2446G>T
1 paper
NM_024949.6
p.L800_A801Splc
c.2401-4A>G
1 paper
NM_024949.6
p.E836del1
c.2506_2507delGAA
1 paper
NM_024949.6
p.Q843H
c.2529A>C
1 paper
NM_024949.6
p.Q843H
c.2529A>T
1 paper
NM_024949.6
p.L854_D855Splc
c.2562+1G>C
4 papers
NM_024949.6
p.A773S
c.2317G>T
1 paper
NM_024949.6
p.K756E
c.2266A>G
1 paper
NM_024949.6
p.R754C
c.2260C>T
2 papers
NM_024949.6
p.V736Splc
c.2207+5G>A
1 paper
NM_024949.6
p.I730M
c.2190A>G
1 paper
NM_024949.6
p.M716L
c.2146A>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."