Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.E58_A59Splc

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.E58_A59Splc
c.175-2A>G
Surrounding Variants
1 paper
NM_024079.5
p.E58_A59Splc
c.175-7A>G
2 papers
NM_024079.5
p.W63R
c.187T>C
2 papers
NM_024079.5
p.W63R
c.187T>A
1 paper
NM_024079.5
p.Y67N
c.199T>A
1 paper
NM_024079.5
p.P68A
c.202C>G
2 papers
NM_024079.5
p.T64_Y67delFs
c.192_201del10
6 papers
NM_024079.5
p.P69L
c.206C>T
1 paper
NM_024079.5
p.P68insFs
c.203dupC
1 paper
NM_024079.5
p.A72S
c.214G>T
1 paper
NM_024079.5
p.F74S
c.221T>C
2 papers
NM_024079.5
p.Y84C
c.251A>G
1 paper
NM_024079.5
p.D86H
c.256G>C
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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."