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.V378I

c.1132G>A

Surrounding Variants

1 paper

NM_001904.4

p.V378delFs

c.1134delT

1 paper

NM_001904.4

p.V378A

c.1133T>C

1 paper

NM_001904.4

p.V378_Q379del2

c.1132_1136del6

1 paper

NM_001904.4

p.L377P

c.1130T>C

1 paper

NM_001904.4

p.L377I

c.1129C>A

1 paper

NM_001904.4

p.L377F

c.1129C>T

1 paper

NM_001904.4

p.Q379*

c.1135C>T

1 paper

NM_001904.4

p.Q379fs

c.1135_1136fs

1 paper

NM_001904.4

p.Q379insFs

c.1136_1137insG

2 papers

NM_001904.4

p.Q379R

c.1136A>G

12 papers

NM_001904.4

p.R376H

c.1127G>A

2 papers

NM_001904.4

p.Q379Q

c.1137G>A