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

1 paper

NM_001904.4

p.H578Q

c.1734C>A

Surrounding Variants

1 paper

NM_001904.4

p.H578Q

c.1734C>G

1 paper

NM_001904.4

p.H578H

c.1734C>T

2 papers

NM_001904.4

p.H578insFs

c.1733_1734insC

2 papers

NM_001904.4

p.H578R

c.1733A>G

1 paper

NM_001904.4

p.I579V

c.1735A>G

1 paper

NM_001904.4

p.H578insFs

c.1733_1734insA

1 paper

NM_001904.4

p.H578Y

c.1732C>T

1 paper

NM_001904.4

p.I579T

c.1736T>C

1 paper

NM_001904.4

p.I579I

c.1737C>T

1 paper

NM_001904.4

p.L580_A581delFs

c.1740_1743del4

1 paper

NM_001904.4

p.L580fs

c.1738_1739fs

3 papers

NM_001904.4

p.L580_A581Fs

c.1738_1742delinsACAFs