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.M55T

c.164T>C

Surrounding Variants

2 papers

NM_001085458.2

p.L54I

c.160C>A

1 paper

NM_001085458.2

p.L54fs

c.160_161fs

1 paper

NM_001085458.2

p.L54_A56delFs

c.161_168del8

3 papers

NM_001085458.2

p.N52S

c.155A>G

1 paper

NM_001085458.2

p.G58G

c.174C>G

1 paper

NM_001085458.2

p.L60I

c.178C>A

1 paper

NM_001085458.2

p.D50H

c.148G>C

1 paper

NM_001085458.2

p.Q49L

c.146A>T

1 paper

NM_001085458.2

p.T61N

c.182C>A

1 paper

NM_001085458.2

p.P48R

c.143C>G

2 papers

NM_001085458.2

p.R62H

c.185G>A

1 paper

NM_001085458.2

p.R62L

c.185G>T