Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.S45Y

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
101 papers
NM_001904.4
p.S45Y
c.134C>A
Surrounding Variants
1 paper
NM_001904.4
p.S45ins4
c.134_135ins12
70 papers
NM_001904.4
p.S45C
c.134C>G
481 papers
NM_001904.4
p.S45F
c.134C>T
NM_001330729.2
p.S38F
c.113C>T
2 papers
NM_001904.4
p.S45delins
c.134_135delinsTG
1 paper
NM_001904.4
p.L46_S47del0
c.136_141del6
7 papers
NM_001904.4
p.S45T
c.133T>A
1 paper
NM_001904.4
p.S45delins
c.133delinsAAGG
362 papers
NM_001904.4
p.S45P
c.133T>C
2 papers
NM_001904.4
p.S45S
c.135T>C
98 papers
NM_001904.4
p.S45A
c.133T>G
1 paper
NM_001904.4
p.S45S
c.135T>G
3 papers
NM_001904.4
p.S45fs
c.133_134fs
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