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.V600A

c.1799T>C

Surrounding Variants

46 papers

NM_001904.4

p.V600E

c.1799T>A

5 papers

NM_001904.4

p.V600G

c.1799T>G

1 paper

NM_001904.4

p.V600delins

c.1799_1800delinsAT

4 papers

NM_001904.4

p.V600M

c.1798G>A

1 paper

NM_001904.4

p.V600V

c.1800G>T

11 papers

NM_001904.4

p.Q601*

c.1801C>T

2 papers

NM_001904.4

p.F599L

c.1797T>A

2 papers

NM_001904.4

p.F599L

c.1797T>G

1 paper

NM_001904.4

p.V600insFs

c.1798dupG

1 paper

NM_001904.4

p.V600_Q601del2

c.1798_1802del6

2 papers

NM_001904.4

p.Q601R

c.1802A>G

1 paper

NM_001904.4

p.F599S

c.1796T>C