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

8 papers

NM_001904.4

p.L46P

c.137T>C

Surrounding Variants

3 papers

NM_001904.4

p.L46M

c.136C>A

1 paper

NM_001904.4

p.L46fs

c.136_137fs

3 papers

NM_001904.4

p.L46insFs

c.137dupT

3 papers

NM_001904.4

p.L46V

c.136C>G

2 papers

NM_001904.4

p.L46L

c.136C>T

1 paper

NM_001904.4

p.L46fs

c.136_137fs

4 papers

NM_001904.4

p.L46L

c.138G>A

1 paper

NM_001904.4

p.L46L

c.138G>C

6 papers

NM_001904.4

p.S47R

c.139A>C

2 papers

NM_001904.4

p.S47G

c.139A>G

1 paper

NM_001904.4

p.S47Fs

c.139delinsTTFs

1 paper

NM_001904.4

p.S47delins

c.139_140delinsCT