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.K158R

c.473A>G

Surrounding Variants

3 papers

NM_001904.4

p.K158E

c.472A>G

1 paper

NM_001904.4

p.L159fs

c.475_476fs

2 papers

NM_001904.4

p.T157delins

c.470_471delinsAA

1 paper

NM_001904.4

p.T157I

c.470C>T

1 paper

NM_001904.4

p.K158delFs

c.472delA

3 papers

NM_001904.4

p.L159P

c.476T>C

1 paper

NM_001904.4

p.T157fs

c.469_470fs

1 paper

NM_001904.4

p.T157A

c.469A>G

2 papers

NM_001904.4

p.L160I

c.478C>A

2 papers

NM_001904.4

p.L156L

c.468G>A

1 paper

NM_001904.4

p.L156L

c.468G>C

2 papers

NM_001904.4

p.L160P

c.479T>C