Varaico: Literature-Extracted Genetic Variants

Gene:B3GLCT
Variant:p.H116Splc

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.H116Splc
c.347+5G>A
Surrounding Variants
2 papers
NM_194318.4
p.H116Splc
c.347+5G>T
1 paper
NM_194318.4
p.H116Splc
c.347+4C>T
1 paper
NM_194318.4
p.H116Splc
c.347+2T>G
1 paper
NM_194318.4
p.P115L
c.344C>T
1 paper
NM_194318.4
p.L114fs
c.340_341fs
1 paper
NM_194318.4
p.L114delFs
c.341delT
1 paper
NM_194318.4
p.Q104_G106Fs
c.312_317delinsAGFs
1 paper
NM_194318.4
p.K103I
c.308A>T
1 paper
NM_194318.4
p.L101M
c.301C>A
1 paper
NM_194318.4
p.L92F
c.274C>T
1 paper
NM_194318.4
p.Q90_E91Splc
c.271-8T>C
1 paper
NM_194318.4
p.H116delFs
c.348delT
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