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.L139M

c.415T>A

Surrounding Variants

1 paper

NM_001904.4

p.L139_Y142delFs

c.417_424del8

1 paper

NM_001904.4

p.N138K

c.414C>A

1 paper

NM_001904.4

p.N138K

c.414C>G

3 papers

NM_001904.4

p.N138N

c.414C>T

1 paper

NM_001904.4

p.L139delFs

c.415_416delTT

1 paper

NM_001904.4

p.L139*

c.416T>A

1 paper

NM_001904.4

p.L139S

c.416T>C

1 paper

NM_001904.4

p.N138T

c.413A>C

1 paper

NM_001904.4

p.N138S

c.413A>G

1 paper

NM_001904.4

p.L139F

c.417G>C

1 paper

NM_001904.4

p.L139F

c.417G>T

1 paper

NM_001904.4

p.I140_N141del1

c.419_421delTTA