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.N594S

c.1781A>G

Surrounding Variants

1 paper

NM_001904.4

p.N594D

c.1780A>G

1 paper

NM_001904.4

p.N594fs

c.1780_1781fs

1 paper

NM_001904.4

p.L593_N594insFs

c.1779_1780insC

1 paper

NM_001904.4

p.L593L

c.1779A>G

1 paper

NM_001904.4

p.T595A

c.1783A>G

2 papers

NM_001904.4

p.T595I

c.1784C>T

1 paper

NM_001904.4

p.N594insFs

c.1781dupA

1 paper

NM_001904.4

p.I596V

c.1786A>G

1 paper

NM_001904.4

p.L593_I596del4

c.1777_1787del12

1 paper

NM_001904.4

p.G592E

c.1775G>A

1 paper

NM_001904.4

p.I596T

c.1787T>C

3 papers

NM_001904.4

p.G592R

c.1774G>A