Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.A239T

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
4 papers
NM_001904.4
p.A239T
c.715G>A
Surrounding Variants
1 paper
NM_001904.4
p.A239S
c.715G>T
2 papers
NM_001904.4
p.A239V
c.716C>T
1 paper
NM_001904.4
p.A239insFs
c.715dupG
1 paper
NM_001904.4
p.P238H
c.713C>A
1 paper
NM_001904.4
p.P238L
c.713C>T
1 paper
NM_001904.4
p.A239A
c.717C>T
1 paper
NM_001904.4
p.P238S
c.712C>T
1 paper
NM_001904.4
p.L240L
c.718C>T
1 paper
NM_001904.4
p.L240delFs
c.719delT
1 paper
NM_001904.4
p.L240fs
c.718_719fs
1 paper
NM_001904.4
p.L240P
c.719T>C
1 paper
NM_001904.4
p.I237_P238delins
c.711_714delinsATCCCCAGTA
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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."