Varaico: Literature-Extracted Genetic Variants

Gene:CTNND2
Variant:p.K814_K815del1

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.K814_K815del1
c.2442_2444delTTC
Surrounding Variants
1 paper
NM_001332.4
p.K815del1
c.2443_2444delTTT
3 papers
NM_001332.4
p.K817del1
c.2449_2450delTTT
1 paper
NM_001332.4
p.K814_K815del2
c.2440_2444del6
1 paper
NM_001332.4
p.D820N
c.2458G>A
1 paper
NM_001332.4
p.K812_Q819del8
c.2434_2456del24
7 papers
NM_001332.4
p.G810R
c.2428G>C
1 paper
NM_001332.4
p.E804K
c.2410G>A
2 papers
NM_001332.4
p.D802G
c.2405A>G
1 paper
NM_001332.4
p.D802Y
c.2404G>T
1 paper
NM_001332.4
p.D802N
c.2404G>A
1 paper
NM_001332.4
p.C795Y
c.2384G>A
1 paper
NM_001332.4
p.G792R
c.2374G>C
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