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.L125S

c.374T>C

Surrounding Variants

3 papers

NM_001904.4

p.L125L

c.375G>A

1 paper

NM_001904.4

p.P128_K133delFs

c.382_398del17

1 paper

NM_001904.4

p.L125insFs

c.373_374insA

1 paper

NM_001904.4

p.L125_A126ins6

c.373_377ins18

1 paper

NM_001904.4

p.A126_L132del7

c.376_395del21

2 papers

NM_001904.4

p.A126T

c.376G>A

1 paper

NM_001904.4

p.A126P

c.376G>C

1 paper

NM_001904.4

p.A126S

c.376G>T

2 papers

NM_001904.4

p.A126delFs

c.377delC

1 paper

NM_001904.4

p.R124_L125insFs

c.372_373insC

2 papers

NM_001904.4

p.A126V

c.377C>T

1 paper

NM_001904.4

p.A126_E127delFs

c.378_379delTG