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.V501G

c.1502T>G

Surrounding Variants

1 paper

NM_001085458.2

p.D499G

c.1496A>G

1 paper

NM_001085458.2

p.H505N

c.1513C>A

1 paper

NM_001085458.2

p.L497W

c.1490T>G

2 papers

NM_001085458.2

p.L494fs

c.1480_1481fs

2 papers

NM_001085458.2

p.L494_H495delFs

c.1481_1485del5

1 paper

NM_001085458.2

p.E509D

c.1527G>C

1 paper

NM_001085458.2

p.E509D

c.1527G>T

1 paper

NM_001085458.2

p.R510W

c.1528C>T

1 paper

NM_001085458.2

p.R510Q

c.1529G>A

1 paper

NM_001085458.2

p.E511D

c.1533A>C

1 paper

NM_001085458.2

p.E511D

c.1533A>T

1 paper

NM_001085458.2

p.D491insFs

c.1472_1473insA