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.K19K

c.57A>G

Surrounding Variants

1 paper

NM_001904.4

p.K19_A20insFs

c.57_58ins8

1 paper

NM_001904.4

p.A20_I35del0

c.58_105del48

7 papers

NM_001904.4

p.K19R

c.56A>G

1 paper

NM_001904.4

p.A20T

c.58G>A

1 paper

NM_001904.4

p.A20fs

c.58_59fs

1 paper

NM_001904.4

p.A20S

c.58G>T

1 paper

NM_001904.4

p.A20delFs

c.59delC

1 paper

NM_001904.4

p.A20_S33del0

c.60_98del39

1 paper

NM_001904.4

p.K19Q

c.55A>C

2 papers

NM_001904.4

p.K19E

c.55A>G

1 paper

NM_001904.4

p.A20E

c.59C>A

17 papers

NM_001904.4

p.A20V

c.59C>T