Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.Q85H

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.Q85H
c.255G>T
Surrounding Variants
1 paper
NM_001904.4
p.Q85H
c.255G>C
1 paper
NM_001904.4
p.Q85R
c.254A>G
1 paper
NM_001904.4
p.Q85L
c.254A>T
1 paper
NM_001904.4
p.Y86H
c.256T>C
1 paper
NM_001904.4
p.Y86insFs
c.257dupA
1 paper
NM_001904.4
p.Y86C
c.257A>G
6 papers
NM_001904.4
p.Y86F
c.257A>T
3 papers
NM_001904.4
p.Q85*
c.253C>T
1 paper
NM_001904.4
p.Y86*
c.258T>A
2 papers
NM_001904.4
p.Y86*
c.258T>G
3 papers
NM_001904.4
p.G84E
c.251G>A
1 paper
NM_001904.4
p.A87T
c.259G>A
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