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.M131I

c.393G>T

Surrounding Variants

1 paper

NM_001904.4

p.M131I

c.393G>A

1 paper

NM_001904.4

p.M131I

c.393G>C

2 papers

NM_001904.4

p.L132L

c.394C>T

2 papers

NM_001904.4

p.M131K

c.392T>A

1 paper

NM_001904.4

p.M131T

c.392T>C

1 paper

NM_001904.4

p.M131V

c.391A>G

1 paper

NM_001904.4

p.L132P

c.395T>C

1 paper

NM_001904.4

p.L132R

c.395T>G

1 paper

NM_001904.4

p.Q130Q

c.390G>A

1 paper

NM_001904.4

p.L132L

c.396G>A

1 paper

NM_001904.4

p.Q130H

c.390G>C

1 paper

NM_001904.4

p.K133insFs

c.398_399insA