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.L240P

c.719T>C

Surrounding Variants

1 paper

NM_001904.4

p.L240L

c.718C>T

1 paper

NM_001904.4

p.L240delFs

c.719delT

1 paper

NM_001904.4

p.L240fs

c.718_719fs

1 paper

NM_001904.4

p.A239A

c.717C>T

1 paper

NM_001904.4

p.V241M

c.721G>A

2 papers

NM_001904.4

p.A239V

c.716C>T

4 papers

NM_001904.4

p.A239T

c.715G>A

1 paper

NM_001904.4

p.M243insFs

c.727dupA

1 paper

NM_001904.4

p.A239S

c.715G>T

1 paper

NM_001904.4

p.M243delFs

c.727delA

1 paper

NM_001904.4

p.K242_L244insFs

c.725_731dup7

1 paper

NM_001904.4

p.K242E

c.724A>G