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

5 papers

NM_001332.4

p.E1044K

c.3130G>A

Surrounding Variants

1 paper

NM_001332.4

p.R1045W

c.3133A>T

1 paper

NM_001332.4

p.A1038_S1039delFs

c.3113_3117del5

1 paper

NM_001332.4

p.Q1048R

c.3143A>G

1 paper

NM_001332.4

p.A1038fs

c.3112_3113fs

1 paper

NM_001332.4

p.S1054F

c.3161C>T

1 paper

NM_001332.4

p.R1055G

c.3163C>G

1 paper

NM_001332.4

p.G1030R

c.3088G>C

1 paper

NM_001332.4

p.G1030R

c.3088G>A

1 paper

NM_001332.4

p.K1028_D1029Splc

c.3085-3C>G

1 paper

NM_001332.4

p.R1063H

c.3188G>A

1 paper

NM_001332.4

p.V1064M

c.3190G>A

1 paper

NM_001332.4

p.R1069H

c.3206G>A