Varaico: Literature-Extracted Genetic Variants

Gene:ALG6

ALG6

171 papers

RefSeq Summary

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

Pfam Domains

Alg6_Alg8aa 11–488UCSCALG6, ALG8 glycosyltransferase family

Gene Aliases

HGNC Name

ALG6 alpha-1,3-glucosyltransferase

HGNC Previous Names

asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase); asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 148 variants
33 papers
NM_013339.4
p.A333V
c.998C>T
23 papers
NM_013339.4
p.Y131H
c.391T>C
19 papers
NM_013339.4
p.S304F
c.911C>T
14 papers
NM_013339.4
p.V86Splc
c.257+5G>A
7 papers
NM_013339.4
p.W56Splc
c.167+5G>A
6 papers
NM_013339.4
p.A84T
c.250G>A
6 papers
NM_013339.4
p.Y161C
c.482A>G
6 papers
NM_013339.4
p.Q165Splc
c.494+2T>G
6 papers
NM_013339.4
p.G227E
c.680G>A
6 papers
NM_013339.4
p.S478P
c.1432T>C
5 papers
NM_013339.4
p.R113H
c.338G>A
5 papers
NM_013339.4
p.L453V
c.1357C>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."