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.E20E

c.60G>A

Surrounding Variants

1 paper

NM_001085458.2

p.E20V

c.59A>T

1 paper

NM_001085458.2

p.Q19Q

c.57A>G

2 papers

NM_001085458.2

p.Q19E

c.55C>G

1 paper

NM_001085458.2

p.Q22H

c.66G>C

1 paper

NM_001085458.2

p.F23Y

c.68T>A

1 paper

NM_001085458.2

p.K17K

c.51G>A

1 paper

NM_001085458.2

p.E24*

c.70G>T

3 papers

NM_001085458.2

p.V16V

c.48G>A

1 paper

NM_001085458.2

p.V16V

c.48G>C

1 paper

NM_001085458.2

p.L26del1

c.76_77delCTG

1 paper

NM_001085458.2

p.V16M

c.46G>A

1 paper

NM_001085458.2

p.S15_V16insFs

c.45_46insT