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.H375H

c.1125C>T

Surrounding Variants

1 paper

NM_001332.4

p.S376P

c.1126T>C

1 paper

NM_001332.4

p.Q377P

c.1130A>C

1 paper

NM_001332.4

p.S369S

c.1107C>T

1 paper

NM_001332.4

p.A381A

c.1143C>G

1 paper

NM_001332.4

p.T382M

c.1145C>T

1 paper

NM_001332.4

p.G389R

c.1165G>C

1 paper

NM_001332.4

p.G389fs

c.1165_1166fs

1 paper

NM_001332.4

p.G389delFs

c.1166delC

1 paper

NM_001332.4

p.L391P

c.1172T>C

2 papers

NM_001332.4

p.S360T

c.1078T>A

1 paper

NM_001332.4

p.A392T

c.1174G>A

1 paper

NM_001332.4

p.T355T

c.1065G>C