Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.D93A

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
Selected Variant
1 paper
NM_013339.4
p.D93A
c.278A>C
Surrounding Variants
1 paper
NM_013339.4
p.N91K
c.273T>A
1 paper
NM_013339.4
p.N91K
c.273T>G
1 paper
NM_013339.4
p.V86Splc
c.258-1G>C
1 paper
NM_013339.4
p.R101P
c.302G>C
1 paper
NM_013339.4
p.Y103S
c.308A>C
1 paper
NM_013339.4
p.Q106*
c.316C>T
1 paper
NM_013339.4
p.H108insFs
c.323_324insT
1 paper
NM_013339.4
p.H108R
c.323A>G
1 paper
NM_013339.4
p.L110V
c.328C>G
2 papers
NM_013339.4
p.R113C
c.337C>T
5 papers
NM_013339.4
p.R113H
c.338G>A
1 paper
NM_013339.4
p.V116Splc
c.346+16G>A
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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."