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.L598S

c.1793T>C

Surrounding Variants

1 paper

NM_001904.4

p.L598_F599insFs

c.1794_1795dupGT

1 paper

NM_001904.4

p.L598fs

c.1792_1793fs

1 paper

NM_001904.4

p.L598delFs

c.1793delT

2 papers

NM_001904.4

p.F599L

c.1795T>C

1 paper

NM_001904.4

p.F599fs

c.1795_1796fs

3 papers

NM_001904.4

p.P597Q

c.1790C>A

1 paper

NM_001904.4

p.P597L

c.1790C>T

1 paper

NM_001904.4

p.F599S

c.1796T>C

1 paper

NM_001904.4

p.P597T

c.1789C>A

1 paper

NM_001904.4

p.P597A

c.1789C>G

3 papers

NM_001904.4

p.P597S

c.1789C>T

2 papers

NM_001904.4

p.F599L

c.1797T>A