Varaico: Literature-Extracted Genetic Variants

Gene:B3GLCT
Variant:p.H116delFs

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.H116delFs
c.348delT
Surrounding Variants
2 papers
NM_194318.4
p.H116H
c.348T>C
1 paper
NM_194318.4
p.T120I
c.359C>T
1 paper
NM_194318.4
p.W127L
c.380G>T
1 paper
NM_194318.4
p.E132A
c.395A>C
1 paper
NM_194318.4
p.E133*
c.397G>T
1 paper
NM_194318.4
p.E144*
c.430G>T
1 paper
NM_194318.4
p.E144V
c.431A>T
1 paper
NM_194318.4
p.D150Y
c.448G>T
5 papers
NM_194318.4
p.K153_E154Splc
c.459+1G>A
1 paper
NM_194318.4
p.K153_E154Splc
c.459+66A>T
5 papers
NM_194318.4
p.H116Splc
c.347+5G>A
2 papers
NM_194318.4
p.H116Splc
c.347+5G>T
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