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.S47A

c.139T>G

Surrounding Variants

1 paper

NM_001085458.2

p.S47*

c.140C>A

1 paper

NM_001085458.2

p.S47*

c.140C>G

1 paper

NM_001085458.2

p.P48T

c.142C>A

1 paper

NM_001085458.2

p.P48R

c.143C>G

1 paper

NM_001085458.2

p.R45W

c.133C>T

1 paper

NM_001085458.2

p.Q49L

c.146A>T

1 paper

NM_001085458.2

p.V44A

c.131T>C

1 paper

NM_001085458.2

p.V44G

c.131T>G

1 paper

NM_001085458.2

p.D50H

c.148G>C

1 paper

NM_001085458.2

p.R43H

c.128G>A

1 paper

NM_001085458.2

p.E42K

c.124G>A

3 papers

NM_001085458.2

p.N52S

c.155A>G