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

2 papers

NM_001904.4

p.Q193P

c.578A>C

Surrounding Variants

2 papers

NM_001904.4

p.Q193R

c.578A>G

5 papers

NM_001904.4

p.Q193*

c.577C>T

1 paper

NM_001904.4

p.Q193Q

c.579G>A

1 paper

NM_001904.4

p.Q193H

c.579G>T

2 papers

NM_001904.4

p.M194V

c.580A>G

2 papers

NM_001904.4

p.P192L

c.575C>T

1 paper

NM_001904.4

p.M194K

c.581T>A

1 paper

NM_001904.4

p.M194T

c.581T>C

1 paper

NM_001904.4

p.P192fs

c.574_575fs

2 papers

NM_001904.4

p.P192S

c.574C>T

1 paper

NM_001904.4

p.M194I

c.582G>A

1 paper

NM_001904.4

p.M194I

c.582G>C