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.L125_A126del2

c.373_377del6

Surrounding Variants

6 papers

NM_001904.4

p.R124H

c.371G>A

2 papers

NM_001904.4

p.R124C

c.370C>T

1 paper

NM_001904.4

p.R124_L125insFs

c.372_373insC

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

1 paper

NM_001904.4

p.R124_L132del9

c.370_395del27

1 paper

NM_001904.4

p.L125S

c.374T>C

15 papers

NM_001904.4

p.Q123*

c.367C>T

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.V122V

c.366C>A