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.P259L

c.776C>T

Surrounding Variants

1 paper

NM_001085458.2

p.R264W

c.790C>T

1 paper

NM_001085458.2

p.S252I

c.755G>T

1 paper

NM_001085458.2

p.G266V

c.797G>T

1 paper

NM_001085458.2

p.P251L

c.752C>T

1 paper

NM_001085458.2

p.R249L

c.746G>T

1 paper

NM_001085458.2

p.R249insFs

c.745dupC

1 paper

NM_001085458.2

p.Y248F

c.743A>T

1 paper

NM_001085458.2

p.H276Y

c.826C>T

1 paper

NM_001085458.2

p.E278K

c.832G>A

2 papers

NM_001085458.2

p.R240Q

c.719G>A

1 paper

NM_001085469.2

p.E138_R139del2

c.412_416del6

1 paper

NM_001085458.2

p.I237_E238delins

c.711_714delinsATCCCCAGTA