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.C213_T214insT

c.637_641ins3

Surrounding Variants

1 paper

NM_001904.4

p.C213Y

c.638G>A

3 papers

NM_001904.4

p.C213F

c.638G>T

1 paper

NM_001904.4

p.T214_A215del2

c.640_644del6

1 paper

NM_001904.4

p.R212H

c.635G>A

1 paper

NM_001904.4

p.R212delFs

c.636delT

1 paper

NM_001904.4

p.R212G

c.634C>G

5 papers

NM_001904.4

p.R212C

c.634C>T

1 paper

NM_001904.4

p.T214I

c.641C>T

1 paper

NM_001904.4

p.A211A

c.633T>C

2 papers

NM_001904.4

p.A211V

c.632C>T

2 papers

NM_001904.4

p.T214T

c.642C>T

6 papers

NM_001904.4

p.A215T

c.643G>A