Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.E426Splc

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
1 paper
NM_024079.5
p.E426Splc
c.1277-24T>A
Surrounding Variants
1 paper
NM_024079.5
p.I429V
c.1285A>G
6 papers
NM_024079.5
p.I439T
c.1316T>C
1 paper
NM_024079.5
p.L445P
c.1334T>C
1 paper
NM_024079.5
p.F449_R450insCG
c.1345_1349ins6
1 paper
NM_024079.5
p.F422L
c.1266C>G
1 paper
NM_024079.5
p.F422L
c.1266C>A
1 paper
NM_024079.5
p.F422L
c.1264T>C
1 paper
NM_024079.5
p.L407delFs
c.1219_1220delAG
1 paper
NM_024079.5
p.L407fs
c.1219_1220fs
2 papers
NM_024079.5
p.S404L
c.1211C>T
1 paper
NM_024079.5
p.S393N
c.1178G>A
1 paper
NM_024079.5
p.S393Splc
c.1179-2A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."