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.L244delFs

c.732delT

Surrounding Variants

1 paper

NM_001904.4

p.L244insFs

c.730_731insT

2 papers

NM_001904.4

p.L244F

c.730C>T

2 papers

NM_001904.4

p.M243I

c.729G>A

2 papers

NM_001904.4

p.M243I

c.729G>C

2 papers

NM_001904.4

p.M243I

c.729G>T

2 papers

NM_001904.4

p.L244P

c.731T>C

1 paper

NM_001904.4

p.M243T

c.728T>C

1 paper

NM_001904.4

p.M243_L244insA

c.727_731ins3

1 paper

NM_001904.4

p.M243V

c.727A>G

15 papers

NM_001904.4

p.G245S

c.733G>A

1 paper

NM_001904.4

p.G245R

c.733G>C

3 papers

NM_001904.4

p.G245C

c.733G>T