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

1–12 of 423 variants

7 papers

NM_001085458.2

p.A431D

c.1292C>A

5 papers

NM_001085458.2

p.K401M

c.1202A>T

5 papers

NM_001085458.2

p.G532D

c.1595G>A

4 papers

NM_001085458.2

p.T310A

c.928A>G

4 papers

NM_001085458.2

p.R458*

c.1372C>T

4 papers

NM_001085458.2

p.R461*

c.1381C>T

4 papers

NM_001085458.2

p.W830*

c.2489G>A

4 papers

NM_001085458.2

p.W830*

c.2490G>A

3 papers

NM_001085458.2

p.M1V

c.1A>G

3 papers

NM_001085458.2

p.V16V

c.48G>A

3 papers

NM_001085458.2

p.N52S

c.155A>G

3 papers

NM_001085458.2

p.N86S

c.257A>G