Varaico: Literature-Extracted Genetic Variants

CTNND1

425 papers

RefSeq Summary

This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in ...

Pfam Domains

Armaa 397–437UCSCArmadillo/beta-catenin-like repeat

Armaa 440–481UCSCArmadillo/beta-catenin-like repeat

Armaa 654–693UCSCArmadillo/beta-catenin-like repeat

Armaa 701–739UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

catenin delta 1

HGNC Alias Symbols

KIAA0384; p120; p120cas; p120ctn

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001085458.2

p.L468I

c.1402C>A

Surrounding Variants

1 paper

NM_001085458.2

p.D465H

c.1393G>C

1 paper

NM_001085458.2

p.V471L

c.1411G>C

1 paper

NM_001085458.2

p.I472V

c.1414A>G

1 paper

NM_001085458.2

p.A463P

c.1387G>C

1 paper

NM_001085458.2

p.R461Q

c.1382G>A

4 papers

NM_001085458.2

p.R461*

c.1381C>T

4 papers

NM_001085458.2

p.R458*

c.1372C>T

1 paper

NM_001085458.2

p.V453_P454ins4

c.1357_1361ins12

1 paper

NM_001085458.2

p.C450W

c.1350T>G

1 paper

NM_001085458.2

p.I447fs

c.1339_1340fs

1 paper

NM_001085458.2

p.A446D

c.1337C>A

1 paper

NM_001085458.2

p.K444T

c.1331A>C