Varaico: Literature-Extracted Genetic Variants

Gene:B3GLCT
Variant:p.L77*

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.L77*
c.230T>A
Surrounding Variants
1 paper
NM_194318.4
p.L77*
c.230T>G
1 paper
NM_194318.4
p.L77fs
c.229_230fs
5 papers
NM_194318.4
p.L77insFs
c.230_231insT
1 paper
NM_194318.4
p.I81_Q84delFs
c.242_251del10
1 paper
NM_194318.4
p.S80fs
c.238_239fs
1 paper
NM_194318.4
p.A74T
c.220G>A
1 paper
NM_194318.4
p.R73S
c.219A>C
1 paper
NM_194318.4
p.R73S
c.219A>T
1 paper
NM_194318.4
p.I81fs
c.241_242fs
1 paper
NM_194318.4
p.R73T
c.218G>C
1 paper
NM_194318.4
p.I81M
c.243C>G
1 paper
NM_194318.4
p.A85insFs
c.253dupG
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