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.N161K

c.483T>A

Surrounding Variants

1 paper

NM_001904.4

p.N161K

c.483T>G

2 papers

NM_001904.4

p.N161T

c.482A>C

1 paper

NM_001904.4

p.N161S

c.482A>G

1 paper

NM_001904.4

p.N161I

c.482A>T

1 paper

NM_001904.4

p.D162N

c.484G>A

1 paper

NM_001904.4

p.N161D

c.481A>G

1 paper

NM_001904.4

p.D162G

c.485A>G

2 papers

NM_001904.4

p.D162V

c.485A>T

1 paper

NM_001904.4

p.D162E

c.486C>A

3 papers

NM_001904.4

p.D162D

c.486C>T

2 papers

NM_001904.4

p.E163K

c.487G>A

1 paper

NM_001904.4

p.E163insFs

c.487_488insT