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

5 papers

NM_001085458.2

p.G532D

c.1595G>A

Surrounding Variants

1 paper

NM_001085458.2

p.G532R

c.1594G>C

1 paper

NM_001085458.2

p.G532C

c.1594G>T

3 papers

NM_001085458.2

p.G532delFs

c.1595delG

1 paper

NM_001085458.2

p.T530insFs

c.1588_1589insC

1 paper

NM_001085458.2

p.T530A

c.1588A>G

1 paper

NM_001085458.2

p.S525L

c.1574C>T

2 papers

NM_001085463.2

p.R418C

c.1252C>T

NM_001085458.2

p.R519C

c.1555C>T

1 paper

NM_001085458.2

p.N513D

c.1537A>G

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.R510Q

c.1529G>A

1 paper

NM_001085458.2

p.R510W

c.1528C>T