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.L316P

c.947T>C

Surrounding Variants

1 paper

NM_001904.4

p.L316M

c.946C>A

1 paper

NM_001904.4

p.I315M

c.945A>G

1 paper

NM_001904.4

p.A317T

c.949G>A

2 papers

NM_001904.4

p.A317delFs

c.950delC

2 papers

NM_001904.4

p.A317fs

c.949_950fs

1 paper

NM_001904.4

p.A317G

c.950C>G

1 paper

NM_001904.4

p.A317V

c.950C>T

2 papers

NM_001904.4

p.I315T

c.944T>C

2 papers

NM_001904.4

p.I315L

c.943A>C

2 papers

NM_001904.4

p.I315V

c.943A>G

2 papers

NM_001904.4

p.I315L

c.943A>T

1 paper

NM_001904.4

p.S318G

c.952A>G