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

Selected Variant

1 paper

NM_001332.4

p.V512D

c.1535T>A

Surrounding Variants

1 paper

NM_001332.4

p.V512I

c.1534G>A

1 paper

NM_001332.4

p.P515P

c.1545A>G

1 paper

NM_001332.4

p.Y516N

c.1546T>A

6 papers

NM_001332.4

p.Q507P

c.1520A>C

1 paper

NM_001332.4

p.Q505H

c.1515G>T

1 paper

NM_001332.4

p.Q505H

c.1515G>C

1 paper

NM_001332.4

p.R504Q

c.1511G>A

2 papers

NM_001332.4

p.R504*

c.1510C>T

1 paper

NM_001332.4

p.A500V

c.1499C>T

1 paper

NM_001332.4

p.A500T

c.1498G>A

1 paper

NM_001332.4

p.Y499Y

c.1497C>T

1 paper

NM_001332.4

p.G494_P495delFs

c.1481_1485del5