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

2 papers

NM_001904.4

p.V349I

c.1045G>A

Surrounding Variants

7 papers

NM_001904.4

p.V349fs

c.1045_1046fs

1 paper

NM_001904.4

p.S348S

c.1044T>A

3 papers

NM_001904.4

p.V349A

c.1046T>C

2 papers

NM_001904.4

p.S348S

c.1044T>C

3 papers

NM_001904.4

p.S348Y

c.1043C>A

1 paper

NM_001904.4

p.S348C

c.1043C>G

4 papers

NM_001904.4

p.S348F

c.1043C>T

1 paper

NM_001904.4

p.V349V

c.1047C>T

1 paper

NM_001904.4

p.S348_V349delFs

c.1044_1045delTG

1 paper

NM_001904.4

p.S348T

c.1042T>A

1 paper

NM_001904.4

p.S348P

c.1042T>C

1 paper

NM_001904.4

p.C350R

c.1048T>C