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.I175V

c.523A>G

Surrounding Variants

1 paper

NM_001085458.2

p.N173delFs

c.518delA

1 paper

NM_001085458.2

p.N172H

c.514A>C

2 papers

NM_001085458.2

p.S171F

c.512C>T

1 paper

NM_001085458.2

p.S171insFs

c.512dupC

1 paper

NM_001085458.2

p.S171fs

c.511_512fs

1 paper

NM_001085458.2

p.S169L

c.506C>T

1 paper

NM_001085458.2

p.D181Y

c.541G>T

1 paper

NM_001085458.2

p.S169T

c.505T>A

1 paper

NM_001085458.2

p.D181A

c.542A>C

1 paper

NM_001085458.2

p.F182delFs

c.544delT

1 paper

NM_001085458.2

p.L163F

c.489G>C

1 paper

NM_001085458.2

p.L163F

c.489G>T