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.D17Y

c.49G>T

Surrounding Variants

3 papers

NM_001904.4

p.D17N

c.49G>A

1 paper

NM_001904.4

p.D17H

c.49G>C

1 paper

NM_001904.4

p.D17insFs

c.50dupA

1 paper

NM_001904.4

p.D17_K19delFs

c.51_57del7

2 papers

NM_001904.4

p.D17G

c.50A>G

1 paper

NM_001904.4

p.D17V

c.50A>T

2 papers

NM_001904.4

p.D17E

c.51C>G

4 papers

NM_001904.4

p.P16L

c.47C>T

1 paper

NM_001904.4

p.R18delFs

c.53_54delGA

1 paper

NM_001904.4

p.R18_K19ins4

c.52_56ins12

1 paper

NM_001904.4

p.R18G

c.52A>G

1 paper

NM_001904.4

p.P16T

c.46C>A