Varaico: Literature-Extracted Genetic Variants

Gene:B3GLCT
Variant:p.K199Splc

B3GLCT

114 papers

RefSeq Summary

The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is...

Pfam Domains

Fringeaa 51–226UCSCFringe-like
Fringeaa 262–482UCSCFringe-like

Gene Aliases

HGNC Name

beta 3-glucosyltransferase

HGNC Previous Symbol

B3GALTL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_194318.4
p.K199Splc
c.597-2A>G
Surrounding Variants
1 paper
NM_194318.4
p.R203*
c.607A>T
1 paper
NM_194318.4
p.E207K
c.619G>A
1 paper
NM_194318.4
p.E207*
c.619G>T
1 paper
NM_194318.4
p.L209F
c.627G>C
1 paper
NM_194318.4
p.L209F
c.627G>T
1 paper
NM_194318.4
p.D212Y
c.634G>T
1 paper
NM_194318.4
p.T214_H219delFs
c.640_656del17
36 papers
NM_194318.4
p.E220_I221Splc
c.660+1G>A
1 paper
NM_194318.4
p.Y224C
c.671A>G
1 paper
NM_194318.4
p.D227H
c.679G>C
1 paper
NM_194318.4
p.K228fs
c.682_683fs
1 paper
NM_194318.4
p.G229insFs
c.685_686insG
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