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.C450W

c.1350T>G

Surrounding Variants

1 paper

NM_001085458.2

p.V453_P454ins4

c.1357_1361ins12

1 paper

NM_001085458.2

p.I447fs

c.1339_1340fs

1 paper

NM_001085458.2

p.A446D

c.1337C>A

1 paper

NM_001085458.2

p.K444T

c.1331A>C

2 papers

NM_001085458.2

p.K444M

c.1331A>T

1 paper

NM_001085458.2

p.N443S

c.1328A>G

4 papers

NM_001085458.2

p.R458*

c.1372C>T

1 paper

NM_001085458.2

p.Q441H

c.1323G>C

1 paper

NM_001085458.2

p.Q441H

c.1323G>T

1 paper

NM_001085458.2

p.D440_A446delFs

c.1320_1336del17

4 papers

NM_001085458.2

p.R461*

c.1381C>T

1 paper

NM_001085458.2

p.R461Q

c.1382G>A