Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.Q27fs

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.Q27fs
c.79_80fs
Surrounding Variants
1 paper
NM_001904.4
p.Q27K
c.79C>A
1 paper
NM_001904.4
p.Q27insFs
c.81dupA
4 papers
NM_001904.4
p.Q27*
c.79C>T
1 paper
NM_001904.4
p.Q27P
c.80A>C
1 paper
NM_001904.4
p.Q27R
c.80A>G
2 papers
NM_001904.4
p.Q27L
c.80A>T
1 paper
NM_001904.4
p.Q27_G34del0
c.81_101del21
2 papers
NM_001904.4
p.Q27delFs
c.79delC
3 papers
NM_001904.4
p.Q26R
c.77A>G
2 papers
NM_001904.4
p.Q27Q
c.81A>G
2 papers
NM_001904.4
p.Q28_H36del0
c.84_107del24
1 paper
NM_001904.4
p.Q26delFs
c.78delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."