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.E76D

c.228A>C

Surrounding Variants

1 paper

NM_001085458.2

p.E76D

c.228A>T

1 paper

NM_001085458.2

p.E76K

c.226G>A

1 paper

NM_001085458.2

p.G71A

c.212G>C

1 paper

NM_001085458.2

p.D82Y

c.244G>T

1 paper

NM_001085458.2

p.R68Q

c.203G>A

1 paper

NM_001085458.2

p.R68L

c.203G>T

2 papers

NM_001085458.2

p.R68W

c.202C>T

1 paper

NM_001085458.2

p.L85L

c.255C>T

3 papers

NM_001085458.2

p.N86S

c.257A>G

1 paper

NM_001085458.2

p.G87R

c.259G>A

1 paper

NM_001085458.2

p.G87R

c.259G>C

1 paper

NM_001085458.2

p.P88T

c.262C>A