Varaico: Literature-Extracted Genetic Variants

Gene:CTNND2
Variant:p.P16H

CTNND2

251 papers

RefSeq Summary

This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gen...

Pfam Domains

Armaa 244–284UCSCArmadillo/beta-catenin-like repeat
Armaa 288–329UCSCArmadillo/beta-catenin-like repeat
Armaa 497–538UCSCArmadillo/beta-catenin-like repeat
Armaa 791–830UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

catenin delta 2

HGNC Alias Symbols

NPRAP; GT24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001332.4
p.P16H
c.47C>A
Surrounding Variants
1 paper
NM_001332.4
p.M15I
c.45G>A
1 paper
NM_001332.4
p.G13E
c.38G>A
1 paper
NM_001332.4
p.G13*
c.37G>T
1 paper
NM_001332.4
p.Q20*
c.58C>T
2 papers
NM_001332.4
p.E26K
c.76G>A
1 paper
NM_001332.4
p.K27*
c.79A>T
1 paper
NM_001332.4
p.T28R
c.83C>G
8 papers
NM_001332.4
p.G34S
c.100G>A
2 papers
NM_001332.4
p.G34A
c.101G>C
2 papers
NM_001332.4
p.G34D
c.101G>A
1 paper
NM_001332.4
p.G34_L35delFs
c.100_103del4
1 paper
NM_001332.4
p.T37N
c.110C>A
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