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

4 papers

NM_001085458.2

p.W830*

c.2490G>A

Surrounding Variants

4 papers

NM_001085458.2

p.W830*

c.2489G>A

1 paper

NM_001085458.2

p.R836W

c.2506C>T

2 papers

NM_001085458.2

p.V825A

c.2474T>C

1 paper

NM_001085458.2

p.K837delFs

c.2509delA

1 paper

NM_001085458.2

p.A821S

c.2461G>T

1 paper

NM_001085469.2

p.R713*

c.2137C>T

1 paper

NM_001085458.2

p.E842*

c.2524G>T

1 paper

NM_001085458.2

p.E842G

c.2525A>G

1 paper

NM_001085458.2

p.E818*

c.2452G>T

1 paper

NM_001085458.2

p.S847*

c.2540C>A

1 paper

NM_001085458.2

p.S847*

c.2540C>G

1 paper

NM_001085458.2

p.Q850_V851Splc

c.2550+1G>A