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.F74L

c.222C>G

Surrounding Variants

1 paper

NM_001904.4

p.F74L

c.222C>A

2 papers

NM_001904.4

p.T75A

c.223A>G

1 paper

NM_001904.4

p.F74S

c.221T>C

2 papers

NM_001904.4

p.T75I

c.224C>T

2 papers

NM_001904.4

p.F74L

c.220T>C

1 paper

NM_001904.4

p.S73_F74insFs

c.219_220insG

1 paper

NM_001904.4

p.S73insFs

c.218_219insG

2 papers

NM_001904.4

p.Q76E

c.226C>G

1 paper

NM_001904.4

p.S73C

c.218C>G

7 papers

NM_001904.4

p.Q76*

c.226C>T

3 papers

NM_001904.4

p.S73F

c.218C>T

1 paper

NM_001904.4

p.Q76P

c.227A>C