Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.M14K

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
424 papers
NM_001904.4
p.M14K
c.41T>A
Surrounding Variants
2 papers
NM_001904.4
p.M14V
c.40A>G
1 paper
NM_001904.4
p.M14L
c.40A>T
1 paper
NM_001904.4
p.M14delFs
c.41delT
1 paper
NM_001904.4
p.M14fs
c.40_41fs
3 papers
NM_001904.4
p.M14I
c.42G>A
4 papers
NM_001904.4
p.M14I
c.42G>C
3 papers
NM_001904.4
p.M14I
c.42G>T
1 paper
NM_001904.4
p.M14delFs
c.40delA
6 papers
NM_001904.4
p.E15K
c.43G>A
1 paper
NM_001904.4
p.E15Q
c.43G>C
2 papers
NM_001904.4
p.E15*
c.43G>T
1 paper
NM_001904.4
p.E15delFs
c.44delA
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