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.S222delFs

c.666delC

Surrounding Variants

2 papers

NM_001904.4

p.S222P

c.664T>C

1 paper

NM_001904.4

p.S222A

c.664T>G

2 papers

NM_001904.4

p.S222F

c.665C>T

1 paper

NM_001904.4

p.L221P

c.662T>C

1 paper

NM_001904.4

p.L221fs

c.661_662fs

1 paper

NM_001904.4

p.L221V

c.661C>G

3 papers

NM_001904.4

p.H223Y

c.667C>T

2 papers

NM_001904.4

p.L221F

c.661C>T

1 paper

NM_001904.4

p.S222delFs

c.664delT

2 papers

NM_001904.4

p.L221fs

c.661_662fs

1 paper

NM_001904.4

p.H223R

c.668A>G

2 papers

NM_001904.4

p.N220S

c.659A>G