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.R565H

c.1694G>A

Surrounding Variants

1 paper

NM_001904.4

p.R565L

c.1694G>T

7 papers

NM_001904.4

p.R565C

c.1693C>T

1 paper

NM_001904.4

p.M566insFs

c.1697dupT

1 paper

NM_001904.4

p.M566V

c.1696A>G

2 papers

NM_001904.4

p.M566T

c.1697T>C

1 paper

NM_001904.4

p.V564A

c.1691T>C

2 papers

NM_001904.4

p.M566I

c.1698G>A

1 paper

NM_001904.4

p.V564I

c.1690G>A

2 papers

NM_001904.4

p.M566I

c.1698G>C

1 paper

NM_001904.4

p.V564fs

c.1690_1691fs

2 papers

NM_001904.4

p.M566I

c.1698G>T

5 papers

NM_001904.4

p.V564fs

c.1690_1691fs