Varaico: Literature-Extracted Genetic Variants

Gene:B3GLCT
Variant:p.D227H

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
1 paper
NM_194318.4
p.D227H
c.679G>C
Surrounding Variants
1 paper
NM_194318.4
p.K228fs
c.682_683fs
1 paper
NM_194318.4
p.G229insFs
c.685_686insG
1 paper
NM_194318.4
p.G229S
c.685G>A
1 paper
NM_194318.4
p.Y224C
c.671A>G
1 paper
NM_194318.4
p.G231R
c.691G>A
1 paper
NM_194318.4
p.T242_T251del10
c.724_752del30
2 papers
NM_194318.4
p.V245M
c.733G>A
1 paper
NM_194318.4
p.T252fs
c.754_755fs
1 paper
NM_194318.4
p.T252delFs
c.755delC
1 paper
NM_194318.4
p.H254Y
c.760C>T
1 paper
NM_194318.4
p.S255C
c.764C>G
1 paper
NM_194318.4
p.R261*
c.781A>T
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