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.S73insFs

c.219dupC

Surrounding Variants

1 paper

NM_001904.4

p.S73P

c.217T>C

1 paper

NM_001904.4

p.S73insFs

c.218_219insG

1 paper

NM_001904.4

p.S73C

c.218C>G

3 papers

NM_001904.4

p.S73F

c.218C>T

1 paper

NM_001904.4

p.Q72H

c.216G>C

1 paper

NM_001904.4

p.Q72H

c.216G>T

1 paper

NM_001904.4

p.Q72_S73insFs

c.216_217insG

3 papers

NM_001904.4

p.Q72L

c.215A>T

1 paper

NM_001904.4

p.S73_F74insFs

c.219_220insG

2 papers

NM_001904.4

p.Q72fs

c.214_215fs

1 paper

NM_001904.4

p.Q72E

c.214C>G

6 papers

NM_001904.4

p.Q72*

c.214C>T