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

2 papers

NM_001904.4

p.G48G

c.144T>C

Surrounding Variants

1 paper

NM_001904.4

p.K49Q

c.145A>C

2 papers

NM_001904.4

p.K49E

c.145A>G

7 papers

NM_001904.4

p.G48D

c.143G>A

1 paper

NM_001904.4

p.G48insFs

c.143_144insA

4 papers

NM_001904.4

p.G48V

c.143G>T

1 paper

NM_001904.4

p.G48_D56del0

c.144_167del24

1 paper

NM_001904.4

p.K49T

c.146A>C

9 papers

NM_001904.4

p.K49R

c.146A>G

10 papers

NM_001904.4

p.K49I

c.146A>T

1 paper

NM_001904.4

p.K49delins

c.146_147delinsTG

2 papers

NM_001904.4

p.G48S

c.142G>A

2 papers

NM_001904.4

p.G48R

c.142G>C