Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.V295M

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.V295M
c.883G>A
Surrounding Variants
1 paper
NM_024079.5
p.L292_D293del2
c.874_878del6
1 paper
NM_024079.5
p.L296Q
c.887T>A
1 paper
NM_024079.5
p.D293N
c.877G>A
4 papers
NM_024079.5
p.I299T
c.896T>C
5 papers
NM_024079.5
p.W286G
c.856T>G
1 paper
NM_024079.5
p.C277_P283insFs
c.831_849dup19
8 papers
NM_024079.5
p.A282V
c.845C>T
1 paper
NM_024079.5
p.A279T
c.835G>A
1 paper
NM_024079.5
p.H278R
c.833A>G
1 paper
NM_024079.5
p.G275fs
c.823_824fs
1 paper
NM_024079.5
p.G275delFs
c.824delC
8 papers
NM_024079.5
p.G275D
c.824G>A
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."