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.K335insFs

c.1005dupA

Surrounding Variants

10 papers

NM_001904.4

p.E334K

c.1000G>A

2 papers

NM_001904.4

p.E334Q

c.1000G>C

1 paper

NM_001904.4

p.E334insFs

c.1001_1002ins4

1 paper

NM_001904.4

p.E334fs

c.1000_1001fs

3 papers

NM_001904.4

p.K335delFs

c.1005delA

1 paper

NM_001904.4

p.E334A

c.1001A>C

1 paper

NM_001904.4

p.E334G

c.1001A>G

1 paper

NM_001904.4

p.K335_L336del2

c.1003_1007del6

30 papers

NM_001904.4

p.Y333*

c.999C>A

30 papers

NM_001904.4

p.Y333*

c.999C>G

1 paper

NM_001904.4

p.K335Fs

c.1003delinsGAFs

1 paper

NM_001904.4

p.Y333C

c.998A>G