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.W336*

c.1008G>A

Surrounding Variants

1 paper

NM_001085458.2

p.W336C

c.1008G>T

1 paper

NM_001085458.2

p.W336*

c.1007G>A

1 paper

NM_001085458.2

p.A337insFs

c.1010_1011insA

1 paper

NM_001085458.2

p.W336delFs

c.1008delG

3 papers

NM_001085458.2

p.Y335F

c.1004A>T

1 paper

NM_001085458.2

p.P338S

c.1012C>T

1 paper

NM_001085458.2

p.L339delFs

c.1016delT

2 papers

NM_001085458.2

p.Y334F

c.1001A>T

1 paper

NM_001085458.2

p.L339fs

c.1015_1016fs

1 paper

NM_001085458.2

p.D332G

c.995A>G

1 paper

NM_001085458.2

p.S331L

c.992C>T

1 paper

NM_001085458.2

p.H342Y

c.1024C>T