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.P420S

c.1258C>T

Surrounding Variants

1 paper

NM_001085458.2

p.K421Q

c.1261A>C

1 paper

NM_001085458.2

p.E423D

c.1269A>C

1 paper

NM_001085458.2

p.E423D

c.1269A>T

1 paper

NM_001085458.2

p.L426I

c.1276C>A

1 paper

NM_001085458.2

p.V414_L417delFs

c.1240_1249del10

1 paper

NM_001085458.2

p.A428_C429delFs

c.1282_1285del4

1 paper

NM_001085458.2

p.A428_C429delFs

c.1284_1287del4

1 paper

NM_001085458.2

p.G409D

c.1226G>A

1 paper

NM_001085458.2

p.A431delFs

c.1292delC

7 papers

NM_001085458.2

p.A431D

c.1292C>A

1 paper

NM_001085458.2

p.K433N

c.1299G>C

1 paper

NM_001085458.2

p.K433N

c.1299G>T