Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.R364*

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
12 papers
NM_024079.5
p.R364*
c.1090C>T
Surrounding Variants
1 paper
NM_024079.5
p.R364Q
c.1091G>A
1 paper
NM_024079.5
p.G361S
c.1081G>A
1 paper
NM_024079.5
p.A370S
c.1108G>T
2 papers
NM_024079.5
p.P356P
c.1068C>G
2 papers
NM_024079.5
p.S373P
c.1117T>C
1 paper
NM_024079.5
p.W353*
c.1059G>A
1 paper
NM_024079.5
p.W353*
c.1058G>A
1 paper
NM_024079.5
p.F350delFs
c.1049delA
1 paper
NM_024079.5
p.W378C
c.1134G>T
1 paper
NM_024079.5
p.W378C
c.1134G>C
1 paper
NM_024079.5
p.S348T
c.1042T>A
1 paper
NM_024079.5
p.L346_P347Splc
c.1039-773C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."