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.A581del1

c.1741_1742delGCT

Surrounding Variants

1 paper

NM_001904.4

p.A581T

c.1741G>A

1 paper

NM_001904.4

p.A581S

c.1741G>T

1 paper

NM_001904.4

p.L580P

c.1739T>C

1 paper

NM_001904.4

p.A581insFs

c.1742_1743insA

1 paper

NM_001904.4

p.A581V

c.1742C>T

1 paper

NM_001904.4

p.L580fs

c.1738_1739fs

3 papers

NM_001904.4

p.L580_A581Fs

c.1738_1742delinsACAFs

1 paper

NM_001904.4

p.I579I

c.1737C>T

1 paper

NM_001904.4

p.L580_A581delFs

c.1740_1743del4

15 papers

NM_001904.4

p.R582W

c.1744C>T

1 paper

NM_001904.4

p.I579T

c.1736T>C

1 paper

NM_001904.4

p.I579V

c.1735A>G