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.Y291F

c.872A>T

Surrounding Variants

1 paper

NM_001085458.2

p.D292N

c.874G>A

1 paper

NM_001085458.2

p.G290S

c.868G>A

1 paper

NM_001085458.2

p.R287insFs

c.859_860insC

1 paper

NM_001085458.2

p.Y296F

c.887A>T

1 paper

NM_001085458.2

p.S300S

c.900T>A

1 paper

NM_001085458.2

p.Y302F

c.905A>T

1 paper

NM_001085458.2

p.Y302*

c.906T>A

1 paper

NM_001085458.2

p.E278K

c.832G>A

1 paper

NM_001085458.2

p.R306C

c.916C>T

2 papers

NM_001085458.2

p.R306H

c.917G>A

1 paper

NM_001085458.2

p.H276Y

c.826C>T

4 papers

NM_001085458.2

p.T310A

c.928A>G