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.G191D

c.572G>A

Surrounding Variants

1 paper

NM_001085458.2

p.P192S

c.574C>T

1 paper

NM_001085458.2

p.P190fs

c.568_569fs

1 paper

NM_001085458.2

p.G189_P190insFs

c.567_568insG

1 paper

NM_001085458.2

p.Y193S

c.578A>C

1 paper

NM_001085463.2

p.T98I

c.293C>T

2 papers

NM_001085458.2

p.L202_P209delFs

c.606_627del22

1 paper

NM_001085458.2

p.D181A

c.542A>C

1 paper

NM_001085458.2

p.F182delFs

c.544delT

1 paper

NM_001085458.2

p.D181Y

c.541G>T

3 papers

NM_001085458.2

p.P203fs

c.607_608fs

1 paper

NM_001085458.2

p.F206L

c.618C>G

1 paper

NM_001085458.2

p.I175V

c.523A>G