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.N51N

c.153T>C

Surrounding Variants

1 paper

NM_001904.4

p.N51K

c.153T>A

1 paper

NM_001904.4

p.N51K

c.153T>G

1 paper

NM_001904.4

p.N51T

c.152A>C

2 papers

NM_001904.4

p.N51S

c.152A>G

1 paper

NM_001904.4

p.P52A

c.154C>G

3 papers

NM_001904.4

p.P52S

c.154C>T

1 paper

NM_001904.4

p.N51D

c.151A>G

1 paper

NM_001904.4

p.P52H

c.155C>A

8 papers

NM_001904.4

p.P52L

c.155C>T

1 paper

NM_001904.4

p.G50_N51insFs

c.150_151insGT

1 paper

NM_001904.4

p.G50G

c.150C>T

1 paper

NM_001904.4

p.N51_V57del7

c.151_170del21