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.L63Q

c.188T>A

Surrounding Variants

3 papers

NM_001904.4

p.L63P

c.188T>C

2 papers

NM_001904.4

p.L63M

c.187C>A

1 paper

NM_001904.4

p.L63V

c.187C>G

3 papers

NM_001904.4

p.L63L

c.187C>T

1 paper

NM_001904.4

p.Y64delFs

c.190delT

1 paper

NM_001904.4

p.V62V

c.186C>T

2 papers

NM_001904.4

p.Y64H

c.190T>C

1 paper

NM_001904.4

p.Y64C

c.191A>G

2 papers

NM_001904.4

p.Y64F

c.191A>T

2 papers

NM_001904.4

p.V62D

c.185T>A

2 papers

NM_001904.4

p.V62A

c.185T>C

1 paper

NM_001904.4

p.V62I

c.184G>A