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.P192S

c.574C>T

Surrounding Variants

1 paper

NM_001904.4

p.P192fs

c.574_575fs

2 papers

NM_001904.4

p.P192L

c.575C>T

1 paper

NM_001904.4

p.S191S

c.573T>C

3 papers

NM_001904.4

p.S191F

c.572C>T

5 papers

NM_001904.4

p.Q193*

c.577C>T

1 paper

NM_001904.4

p.S191P

c.571T>C

3 papers

NM_001904.4

p.S191A

c.571T>G

1 paper

NM_001904.4

p.S191_P192del1

c.572_574delCTC

2 papers

NM_001904.4

p.Q193P

c.578A>C

2 papers

NM_001904.4

p.Q193R

c.578A>G

13 papers

NM_001904.4

p.R190H

c.569G>A

1 paper

NM_001904.4

p.Q193Q

c.579G>A