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.E562G

c.1685A>G

Surrounding Variants

4 papers

NM_001904.4

p.G563_V564insFs

c.1689_1690dupGG

5 papers

NM_001904.4

p.E562_V564Fs

c.1686_1690delinsGGGGFs

3 papers

NM_001904.4

p.E562K

c.1684G>A

2 papers

NM_001904.4

p.E562fs

c.1684_1685fs

1 paper

NM_001904.4

p.E562fs

c.1684_1685fs

2 papers

NM_001904.4

p.G563R

c.1687G>A

2 papers

NM_001904.4

p.G563R

c.1687G>C

2 papers

NM_001904.4

p.G563E

c.1688G>A

1 paper

NM_001904.4

p.V564I

c.1690G>A

1 paper

NM_001904.4

p.V564fs

c.1690_1691fs

5 papers

NM_001904.4

p.V564fs

c.1690_1691fs

1 paper

NM_001904.4

p.V564A

c.1691T>C