Varaico: Literature-Extracted Genetic Variants

Gene:CTNND2
Variant:p.R713C

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
4 papers
NM_001332.4
p.R713C
c.2137C>T
Surrounding Variants
1 paper
NM_001332.4
p.V711V
c.2133G>A
1 paper
NM_001332.4
p.T716T
c.2148C>T
1 paper
NM_001332.4
p.S709L
c.2126C>T
1 paper
NM_001332.4
p.Q705H
c.2115G>T
1 paper
NM_001332.4
p.Q705H
c.2115G>C
1 paper
NM_001332.4
p.S696L
c.2087C>T
1 paper
NM_001332.4
p.H690Q
c.2070C>G
1 paper
NM_001332.4
p.H690Q
c.2070C>A
2 papers
NM_001332.4
p.A685V
c.2054C>T
1 paper
NM_001332.4
p.L682P
c.2045T>C
1 paper
NM_001332.4
p.D677_L679del3
c.2029_2036del9
1 paper
NM_001332.4
p.A678T
c.2032G>A
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