Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.T40_S47del0

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.T40_S47del0
c.119_139del21
Surrounding Variants
1 paper
NM_001904.4
p.A39A
c.117C>T
1 paper
NM_001904.4
p.T40insFs
c.118_119insAC
4 papers
NM_001904.4
p.T40P
c.118A>C
7 papers
NM_001904.4
p.T40A
c.118A>G
1 paper
NM_001904.4
p.T40S
c.118A>T
1 paper
NM_001904.4
p.T41_S45del0
c.121_135del15
1 paper
NM_001904.4
p.T41_P52del12
c.121_155del36
1 paper
NM_001904.4
p.A39D
c.116C>A
6 papers
NM_001904.4
p.A39G
c.116C>G
8 papers
NM_001904.4
p.A39V
c.116C>T
1 paper
NM_001904.4
p.A39_G50del0
c.117_149del33
1 paper
NM_001904.4
p.T40S
c.119C>G
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