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.Q322*

c.964C>T

Surrounding Variants

4 papers

NM_001904.4

p.Q322fs

c.964_965fs

1 paper

NM_001904.4

p.Q322_W338del0

c.965_1012del48

1 paper

NM_001904.4

p.Q322insFs

c.965_966insC

1 paper

NM_001904.4

p.Q322R

c.965A>G

1 paper

NM_001904.4

p.A323delFs

c.967delG

1 paper

NM_001904.4

p.P321insFs

c.962_963insA

1 paper

NM_001904.4

p.P321S

c.961C>T

1 paper

NM_001904.4

p.A323T

c.967G>A

2 papers

NM_001904.4

p.A323P

c.967G>C

3 papers

NM_001904.4

p.Q322insFs

c.964dupC

2 papers

NM_001904.4

p.P321delFs

c.961delC

1 paper

NM_001904.4

p.A323insFs

c.968_969insA