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.E31V

c.92A>T

Surrounding Variants

1 paper

NM_001085458.2

p.E31G

c.92A>G

1 paper

NM_001085458.2

p.L30M

c.88C>A

1 paper

NM_001085458.2

p.A29fs

c.85_86fs

1 paper

NM_001085458.2

p.R34W

c.100C>T

1 paper

NM_001085458.2

p.R34Q

c.101G>A

1 paper

NM_001085458.2

p.R28delFs

c.83delG

1 paper

NM_001085458.2

p.R35R

c.105C>G

1 paper

NM_001085458.2

p.H36H

c.108C>T

1 paper

NM_001085458.2

p.L26del1

c.76_77delCTG

1 paper

NM_001085458.2

p.A39delFs

c.115delG

1 paper

NM_001085458.2

p.E24*

c.70G>T

1 paper

NM_001085458.2

p.A39V

c.116C>T