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.A172V

c.515C>T

Surrounding Variants

1 paper

NM_001904.4

p.A172G

c.515C>G

1 paper

NM_001904.4

p.A172insFs

c.515dupC

4 papers

NM_001904.4

p.V173L

c.517G>C

1 paper

NM_001904.4

p.V173insFs

c.517_518insA

1 paper

NM_001904.4

p.V173F

c.517G>T

1 paper

NM_001904.4

p.V173delFs

c.519delT

1 paper

NM_001904.4

p.A171V

c.512C>T

1 paper

NM_001904.4

p.V173D

c.518T>A

1 paper

NM_001904.4

p.V173A

c.518T>C

2 papers

NM_001904.4

p.V173G

c.518T>G

2 papers

NM_001904.4

p.A171T

c.511G>A

1 paper

NM_001904.4

p.A171P

c.511G>C