Varaico: Literature-Extracted Genetic Variants

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

1–12 of 331 variants

8 papers

NM_001332.4

p.G34S

c.100G>A

7 papers

NM_001332.4

p.G810R

c.2428G>C

6 papers

NM_001332.4

p.Q507P

c.1520A>C

5 papers

NM_001332.4

p.E1044K

c.3130G>A

4 papers

NM_001332.4

p.A3A

c.9G>A

4 papers

NM_001332.4

p.R713C

c.2137C>T

4 papers

NM_001332.4

p.K814_K815del1

c.2442_2444delTTC

3 papers

NM_001332.4

p.P224L

c.671C>T

3 papers

NM_001332.4

p.K817del1

c.2449_2450delTTT

3 papers

NM_001332.4

p.T862M

c.2585C>T

3 papers

NM_001332.4

p.R885*

c.2653C>T

2 papers

NM_001332.4

p.P16H

c.47C>A