Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.T48S

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.T48S
c.142A>T
Surrounding Variants
2 papers
NM_013339.4
p.I47L
c.139A>C
1 paper
NM_013339.4
p.L51S
c.152T>C
1 paper
NM_013339.4
p.H43N
c.127C>A
1 paper
NM_013339.4
p.W56insFs
c.167_168insC
7 papers
NM_013339.4
p.W56Splc
c.167+5G>A
1 paper
NM_013339.4
p.M34R
c.101T>G
1 paper
NM_013339.4
p.Y57*
c.171T>A
1 paper
NM_013339.4
p.Y57*
c.171T>G
1 paper
NM_013339.4
p.D62A
c.185A>C
1 paper
NM_013339.4
p.N64S
c.191A>G
1 paper
NM_013339.4
p.Q66*
c.196C>T
1 paper
NM_013339.4
p.L75F
c.223C>T
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."