Varaico: Literature-Extracted Genetic Variants

Gene:WWC2
Variant:p.K485E

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.K485E
c.1453A>G
Surrounding Variants
1 paper
NM_024949.6
p.K485T
c.1454A>C
1 paper
NM_024949.6
p.P498H
c.1493C>A
1 paper
NM_024949.6
p.Y470C
c.1409A>G
1 paper
NM_024949.6
p.N462S
c.1385A>G
2 papers
NM_024949.6
p.R450Q
c.1349G>A
2 papers
NM_024949.6
p.V525A
c.1574T>C
1 paper
NM_024949.6
p.S431F
c.1292C>T
1 paper
NM_024949.6
p.L546V
c.1636C>G
1 paper
NM_024949.6
p.P557L
c.1670C>T
1 paper
NM_024949.6
p.T567M
c.1700C>T
1 paper
NM_024949.6
p.A583V
c.1748C>T
1 paper
NM_024949.6
p.E601K
c.1801G>A
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