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

7 papers

NM_001904.4

p.S45T

c.133T>A

Surrounding Variants

1 paper

NM_001904.4

p.S45delins

c.133delinsAAGG

362 papers

NM_001904.4

p.S45P

c.133T>C

98 papers

NM_001904.4

p.S45A

c.133T>G

3 papers

NM_001904.4

p.S45fs

c.133_134fs

1 paper

NM_001904.4

p.S45delins

c.133_134delinsAT

1 paper

NM_001904.4

p.S45delins

c.133_134delinsCT

1 paper

NM_001904.4

p.S45delins

c.133_134delinsGT

1 paper

NM_001904.4

p.S45delFs

c.134delC

5 papers

NM_001904.4

p.S45_L46del1

c.134_136delCTC

3 papers

NM_001904.4

p.S45_S47del0

c.134_139del6

101 papers

NM_001904.4

p.S45Y

c.134C>A

1 paper

NM_001904.4

p.S45ins4

c.134_135ins12