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.Y30C

c.89A>G

Surrounding Variants

4 papers

NM_001904.4

p.Y30S

c.89A>C

4 papers

NM_001904.4

p.Y30F

c.89A>T

1 paper

NM_001904.4

p.Y30_L31delFs

c.90_93del4

1 paper

NM_001904.4

p.Y30_S33del0

c.90_98del9

1 paper

NM_001904.4

p.L31_H36del0

c.92_106del15

10 papers

NM_001904.4

p.Y30*

c.90C>A

10 papers

NM_001904.4

p.Y30*

c.90C>G

2 papers

NM_001904.4

p.Y30Y

c.90C>T

1 paper

NM_001904.4

p.L31_S33del0

c.91_99del9

1 paper

NM_001904.4

p.D32_G38delFs

c.95_113del19

2 papers

NM_001904.4

p.Y30H

c.88T>C

1 paper

NM_001904.4

p.Y30fs

c.88_89fs