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.L385delFs

c.1155delC

Surrounding Variants

2 papers

NM_001904.4

p.L385P

c.1154T>C

2 papers

NM_001904.4

p.L385L

c.1155C>A

2 papers

NM_001904.4

p.L385insFs

c.1154dupT

1 paper

NM_001904.4

p.L385V

c.1153C>G

1 paper

NM_001904.4

p.L385F

c.1153C>T

1 paper

NM_001904.4

p.L385L

c.1155C>T

5 papers

NM_001904.4

p.L385fs

c.1153_1154fs

1 paper

NM_001904.4

p.R386R

c.1156A>C

2 papers

NM_001904.4

p.R386G

c.1156A>G

1 paper

NM_001904.4

p.R386W

c.1156A>T

2 papers

NM_001904.4

p.R386fs

c.1156_1157fs

1 paper

NM_001904.4

p.T384I

c.1151C>T