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

9 papers

NM_001904.4

p.A5P

c.13G>C

Surrounding Variants

5 papers

NM_001904.4

p.A5T

c.13G>A

2 papers

NM_001904.4

p.A5V

c.14C>T

1 paper

NM_001904.4

p.A5Splc

c.13+1G>A

1 paper

NM_001904.4

p.Q4P

c.11A>C

1 paper

NM_001904.4

p.Q4R

c.11A>G

1 paper

NM_001904.4

p.Q4insFs

c.11dupA

1 paper

NM_001904.4

p.Q4E

c.10C>G

4 papers

NM_001904.4

p.Q4*

c.10C>T

1 paper

NM_001904.4

p.T3N

c.8C>A

3 papers

NM_001904.4

p.T3S

c.8C>G

1 paper

NM_001904.4

p.T3I

c.8C>T

1 paper

NM_001904.4

p.T3A

c.7A>G