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.H223R

c.668A>G

Surrounding Variants

3 papers

NM_001904.4

p.H223Y

c.667C>T

1 paper

NM_001904.4

p.H223Q

c.669T>A

1 paper

NM_001904.4

p.H223Q

c.669T>G

1 paper

NM_001904.4

p.H224fs

c.670_671fs

1 paper

NM_001904.4

p.H224Y

c.670C>T

1 paper

NM_001904.4

p.H224P

c.671A>C

2 papers

NM_001904.4

p.H224R

c.671A>G

2 papers

NM_001904.4

p.S222F

c.665C>T

2 papers

NM_001904.4

p.S222P

c.664T>C

1 paper

NM_001904.4

p.S222A

c.664T>G

1 paper

NM_001904.4

p.S222delFs

c.666delC

1 paper

NM_001904.4

p.R225fs

c.673_674fs