Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.L10S

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.L10S
c.29T>C
Surrounding Variants
1 paper
NM_001904.4
p.L10F
c.30G>T
1 paper
NM_001904.4
p.L10L
c.28T>C
1 paper
NM_001904.4
p.L10insFs
c.28_29insA
3 papers
NM_001904.4
p.D11N
c.31G>A
5 papers
NM_001904.4
p.D11H
c.31G>C
1 paper
NM_001904.4
p.E9_L10insFs
c.27_28ins17
1 paper
NM_001904.4
p.E9D
c.27G>T
1 paper
NM_001904.4
p.E9ins1
c.26_27insGGT
1 paper
NM_001904.4
p.D11A
c.32A>C
4 papers
NM_001904.4
p.D11G
c.32A>G
1 paper
NM_001904.4
p.E9G
c.26A>G
3 papers
NM_001904.4
p.D11V
c.32A>T
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