Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.Y32Splc

ALG8

142 papers

RefSeq Summary

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-lin...

Pfam Domains

Alg6_Alg8aa 21–302UCSCALG6, ALG8 glycosyltransferase family

Gene Aliases

HGNC Name

ALG8 alpha-1,3-glucosyltransferase

HGNC Alias Symbol

MGC2840

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_024079.5
p.Y32Splc
c.96-2A>G
Surrounding Variants
1 paper
NM_024079.5
p.Y32Splc
c.96-6G>C
2 papers
NM_024079.5
p.T35I
c.104C>T
1 paper
NM_024079.5
p.Y32_D36delFs
c.96_106del11
1 paper
NM_024079.5
p.H40Y
c.118C>T
8 papers
NM_024079.5
p.R41*
c.121C>T
4 papers
NM_024079.5
p.R41Q
c.122G>A
1 paper
NM_024079.5
p.W43*
c.128G>A
1 paper
NM_024079.5
p.W43*
c.129G>A
1 paper
NM_024079.5
p.T47fs
c.139_140fs
15 papers
NM_024079.5
p.T47P
c.139A>C
1 paper
NM_024079.5
p.T47S
c.140C>G
1 paper
NM_024079.5
p.T47insFs
c.139dupA
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