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

3 papers

NM_001085458.2

p.M1V

c.1A>G

Surrounding Variants

1 paper

NM_001085458.2

p.M1insFs

c.2dupT

2 papers

NM_001085458.2

p.M1T

c.2T>C

1 paper

NM_001085458.2

p.M1R

c.2T>G

1 paper

NM_001085458.2

p.M1I

c.3G>A

1 paper

NM_001085458.2

p.M1_D2insFs

c.3_4insT

1 paper

NM_001085458.2

p.D2Fs

c.4delinsGTFs

1 paper

NM_001085458.2

p.S4L

c.11C>T

2 papers

NM_001085458.2

p.E5Q

c.13G>C

1 paper

NM_001085458.2

p.V6M

c.16G>A

1 paper

NM_001085458.2

p.V6A

c.17T>C

1 paper

NM_001085458.2

p.S8insFs

c.22dupT

1 paper

NM_001085458.2

p.S8L

c.23C>T