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.I82T

c.245T>C

Surrounding Variants

3 papers

NM_001904.4

p.I82V

c.244A>G

1 paper

NM_001904.4

p.I82F

c.244A>T

1 paper

NM_001904.4

p.I82I

c.246T>A

1 paper

NM_001904.4

p.D83N

c.247G>A

1 paper

NM_001904.4

p.D81D

c.243T>C

1 paper

NM_001904.4

p.D81_I82insFs

c.243_244insA

2 papers

NM_001904.4

p.D83G

c.248A>G

1 paper

NM_001904.4

p.D81G

c.242A>G

3 papers

NM_001904.4

p.D81V

c.242A>T

1 paper

NM_001904.4

p.D81Splc

c.242-1G>A

4 papers

NM_001904.4

p.D81Splc

c.242-1G>C

1 paper

NM_001904.4

p.G84delFs

c.251delG