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

2 papers

NM_001904.4

p.T330A

c.988A>G

Surrounding Variants

1 paper

NM_001904.4

p.T330fs

c.988_989fs

2 papers

NM_001904.4

p.T330I

c.989C>T

1 paper

NM_001904.4

p.R329K

c.986G>A

1 paper

NM_001904.4

p.R329M

c.986G>T

2 papers

NM_001904.4

p.R329insFs

c.987dupG

1 paper

NM_001904.4

p.R329G

c.985A>G

3 papers

NM_001904.4

p.Y331C

c.992A>G

1 paper

NM_001904.4

p.M328I

c.984G>A

1 paper

NM_001904.4

p.M328I

c.984G>C

1 paper

NM_001904.4

p.M328I

c.984G>T

1 paper

NM_001904.4

p.Y331*

c.993T>A

4 papers

NM_001904.4

p.M328T

c.983T>C