Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.Y30H

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.Y30H
c.88T>C
Surrounding Variants
1 paper
NM_001904.4
p.Y30fs
c.88_89fs
2 papers
NM_001904.4
p.L31_D32del0
c.91_96del6
1 paper
NM_001904.4
p.Y30_I35del0
c.89_103del15
1 paper
NM_001904.4
p.Y30_H36del0
c.90_107del18
4 papers
NM_001904.4
p.Y30S
c.89A>C
1 paper
NM_001904.4
p.Y30C
c.89A>G
4 papers
NM_001904.4
p.Y30F
c.89A>T
1 paper
NM_001904.4
p.Y30_L31delFs
c.90_93del4
1 paper
NM_001904.4
p.Y30_S33del0
c.90_98del9
1 paper
NM_001904.4
p.L31_H36del0
c.92_106del15
1 paper
NM_001904.4
p.S29S
c.87T>C
1 paper
NM_001904.4
p.S29S
c.87T>G
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