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.L228S

c.683T>C

Surrounding Variants

5 papers

NM_001904.4

p.L228I

c.682T>A

1 paper

NM_001904.4

p.L229L

c.685C>T

2 papers

NM_001904.4

p.L229fs

c.685_686fs

3 papers

NM_001904.4

p.G227D

c.680G>A

1 paper

NM_001904.4

p.A230insFs

c.688dupG

1 paper

NM_001904.4

p.G227S

c.679G>A

1 paper

NM_001904.4

p.G227fs

c.679_680fs

2 papers

NM_001904.4

p.A230T

c.688G>A

2 papers

NM_001904.4

p.G227insFs

c.679_680insAG

5 papers

NM_001904.4

p.G227insFs

c.680dupG

1 paper

NM_001904.4

p.E226G

c.677A>G

2 papers

NM_001904.4

p.A230V

c.689C>T