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.Y228F

c.683A>T

Surrounding Variants

1 paper

NM_001085458.2

p.Y228C

c.683A>G

1 paper

NM_001085458.2

p.Y228*

c.684T>A

1 paper

NM_001085458.2

p.Y228*

c.684T>G

1 paper

NM_001085458.2

p.S230R

c.690T>G

1 paper

NM_001085458.2

p.S232C

c.695C>G

1 paper

NM_001085458.2

p.P222R

c.665C>G

2 papers

NM_001085458.2

p.R236C

c.706C>T

1 paper

NM_001085458.2

p.I237_E238delins

c.711_714delinsATCCCCAGTA

1 paper

NM_001085469.2

p.E138_R139del2

c.412_416del6

2 papers

NM_001085458.2

p.Y217C

c.650A>G

1 paper

NM_001085458.2

p.Y217F

c.650A>T

2 papers

NM_001085458.2

p.R240Q

c.719G>A