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.P119L

c.356C>T

Surrounding Variants

1 paper

NM_001904.4

p.P119A

c.355C>G

1 paper

NM_001904.4

p.P119S

c.355C>T

1 paper

NM_001904.4

p.P119P

c.357C>T

1 paper

NM_001904.4

p.T120_N121delFs

c.358_361del4

4 papers

NM_001904.4

p.T120A

c.358A>G

1 paper

NM_001904.4

p.T120fs

c.358_359fs

2 papers

NM_001904.4

p.H118H

c.354T>C

2 papers

NM_001904.4

p.H118R

c.353A>G

2 papers

NM_001904.4

p.T120I

c.359C>T

2 papers

NM_001904.4

p.H118Y

c.352C>T

1 paper

NM_001904.4

p.N121_A135del15

c.361_404del45

1 paper

NM_001904.4

p.N121D

c.361A>G