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.P128_Y142del15

c.382_425del45

Surrounding Variants

1 paper

NM_001904.4

p.P128delFs

c.382delC

2 papers

NM_001904.4

p.E127G

c.380A>G

1 paper

NM_001904.4

p.P128del1

c.382_383delCCA

1 paper

NM_001904.4

p.P128T

c.382C>A

1 paper

NM_001904.4

p.P128S

c.382C>T

1 paper

NM_001904.4

p.P128fs

c.382_383fs

3 papers

NM_001904.4

p.P128L

c.383C>T

1 paper

NM_001904.4

p.E127insFs

c.380_381insTA

1 paper

NM_001904.4

p.E127delFs

c.381delA

2 papers

NM_001904.4

p.P128P

c.384A>G

1 paper

NM_001904.4

p.E127_S129del3

c.379_386del9

2 papers

NM_001904.4

p.A126V

c.377C>T