Varaico: Literature-Extracted Genetic Variants

CTNNB1

5,172 papers

RefSeq Summary

The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating c...

Pfam Domains

Armaa 224–264UCSCArmadillo/beta-catenin-like repeat

Armaa 350–390UCSCArmadillo/beta-catenin-like repeat

Armaa 431–473UCSCArmadillo/beta-catenin-like repeat

Armaa 583–623UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

catenin beta 1

HGNC Alias Symbols

beta-catenin; armadillo

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001904.4

p.D6N

c.16G>A

Surrounding Variants

1 paper

NM_001904.4

p.D6Y

c.16G>T

1 paper

NM_001904.4

p.D6A

c.17A>C

1 paper

NM_001904.4

p.D6G

c.17A>G

3 papers

NM_001904.4

p.D6V

c.17A>T

3 papers

NM_001904.4

p.A5V

c.14C>T

1 paper

NM_001904.4

p.D6_L7insFs

c.18_19ins4

1 paper

NM_001904.4

p.A5insFs

c.14dupC

2 papers

NM_001904.4

p.L7V

c.19T>G

1 paper

NM_001904.4

p.L7fs

c.19_20fs

2 papers

NM_001904.4

p.A5Splc

c.14-2A>G

1 paper

NM_001904.4

p.L7S

c.20T>C

2 papers

NM_001904.4

p.L7W

c.20T>G