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.H134Y

c.400C>T

Surrounding Variants

1 paper

NM_001904.4

p.H134_A135ins12

c.400_404ins36

5 papers

NM_001904.4

p.H134R

c.401A>G

3 papers

NM_001904.4

p.H134_V136del3

c.400_407del9

1 paper

NM_001904.4

p.H134_L139del6

c.400_416del18

1 paper

NM_001904.4

p.K133R

c.398A>G

2 papers

NM_001904.4

p.K133E

c.397A>G

2 papers

NM_001904.4

p.A135T

c.403G>A

1 paper

NM_001904.4

p.A135delFs

c.404delC

1 paper

NM_001904.4

p.A135_V136insFs

c.405_406insA

1 paper

NM_001904.4

p.A135V

c.404C>T

1 paper

NM_001904.4

p.L132L

c.396G>A

1 paper

NM_001904.4

p.K133insFs

c.398_399insA