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

2 papers

NM_001085458.2

p.L379L

c.1137G>A

Surrounding Variants

1 paper

NM_001085458.2

p.E370A

c.1109A>C

1 paper

NM_001085458.2

p.E370K

c.1108G>A

1 paper

NM_001085458.2

p.E370Q

c.1108G>C

1 paper

NM_001085458.2

p.E370*

c.1108G>T

1 paper

NM_001085458.2

p.P369S

c.1105C>T

3 papers

NM_001085458.2

p.Q365*

c.1093C>T

1 paper

NM_001085458.2

p.R396C

c.1186C>T

1 paper

NM_001085458.2

p.R396H

c.1187G>A

1 paper

NM_001085458.2

p.D398N

c.1192G>A

1 paper

NM_001085458.2

p.P361T

c.1081C>A

1 paper

NM_001085458.2

p.K399N

c.1197G>T

1 paper

NM_001085458.2

p.V400L

c.1198G>T