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.F232L

c.694T>C

Surrounding Variants

1 paper

NM_001904.4

p.I231_F232insFs

c.693_694insT

1 paper

NM_001904.4

p.I231M

c.693C>G

1 paper

NM_001904.4

p.F232delFs

c.695delT

1 paper

NM_001904.4

p.F232delFs

c.695_696delTT

1 paper

NM_001904.4

p.F232Y

c.695T>A

1 paper

NM_001904.4

p.F232S

c.695T>C

2 papers

NM_001904.4

p.F232L

c.696T>A

1 paper

NM_001904.4

p.F232F

c.696T>C

2 papers

NM_001904.4

p.F232L

c.696T>G

2 papers

NM_001904.4

p.K233E

c.697A>G

1 paper

NM_001904.4

p.I231V

c.691A>G

1 paper

NM_001904.4

p.I231fs

c.691_692fs