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.Q143_D145del3

c.427_434del9

Surrounding Variants

1 paper

NM_001904.4

p.Y142N

c.424T>A

7 papers

NM_001904.4

p.Y142fs

c.424_425fs

1 paper

NM_001904.4

p.Y142C

c.425A>G

12 papers

NM_001904.4

p.Y142F

c.425A>T

1 paper

NM_001904.4

p.N141K

c.423C>A

4 papers

NM_001904.4

p.N141_Y142insFs

c.423_424insG

1 paper

NM_001904.4

p.Y142_A152ins3

c.424_456dup33

1 paper

NM_001904.4

p.N141K

c.423C>G

3 papers

NM_001904.4

p.N141S

c.422A>G

2 papers

NM_001904.4

p.N141I

c.422A>T

2 papers

NM_001904.4

p.N141D

c.421A>G

1 paper

NM_001904.4

p.Q143*

c.427C>T