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.N586S

c.1757A>G

Surrounding Variants

2 papers

NM_001904.4

p.N586D

c.1756A>G

1 paper

NM_001904.4

p.H585_N586insFs

c.1755_1756ins8

16 papers

NM_001904.4

p.R587*

c.1759C>T

1 paper

NM_001904.4

p.R587delFs

c.1760_1761delGA

1 paper

NM_001904.4

p.R587fs

c.1759_1760fs

1 paper

NM_001904.4

p.H585R

c.1754A>G

13 papers

NM_001904.4

p.R587Q

c.1760G>A

1 paper

NM_001904.4

p.R587P

c.1760G>C

1 paper

NM_001904.4

p.H585Y

c.1753C>T

1 paper

NM_001904.4

p.I588V

c.1762A>G

1 paper

NM_001904.4

p.V589del1

c.1765_1766delGTT

1 paper

NM_001904.4

p.V584A

c.1751T>C