Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.V62A

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.V62A
c.185T>C
Surrounding Variants
2 papers
NM_001904.4
p.V62D
c.185T>A
1 paper
NM_001904.4
p.V62V
c.186C>T
1 paper
NM_001904.4
p.V62I
c.184G>A
25 papers
NM_001904.4
p.Q61H
c.183A>C
2 papers
NM_001904.4
p.Q61Q
c.183A>G
26 papers
NM_001904.4
p.Q61H
c.183A>T
2 papers
NM_001904.4
p.L63M
c.187C>A
1 paper
NM_001904.4
p.L63V
c.187C>G
3 papers
NM_001904.4
p.L63L
c.187C>T
20 papers
NM_001904.4
p.Q61R
c.182A>G
18 papers
NM_001904.4
p.Q61L
c.182A>T
1 paper
NM_001904.4
p.L63Q
c.188T>A
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