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.A391T

c.1171G>A

Surrounding Variants

2 papers

NM_001904.4

p.A391S

c.1171G>T

3 papers

NM_001904.4

p.A391V

c.1172C>T

1 paper

NM_001904.4

p.D390E

c.1170T>A

1 paper

NM_001904.4

p.D390E

c.1170T>G

1 paper

NM_001904.4

p.D390insFs

c.1170dupT

1 paper

NM_001904.4

p.D390G

c.1169A>G

3 papers

NM_001904.4

p.A392T

c.1174G>A

1 paper

NM_001904.4

p.D390N

c.1168G>A

1 paper

NM_001904.4

p.A392S

c.1174G>T

2 papers

NM_001904.4

p.A392V

c.1175C>T

1 paper

NM_001904.4

p.S389L

c.1166C>T

2 papers

NM_001904.4

p.T393A

c.1177A>G