Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.L353Splc

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.L353Splc
c.1058+2T>G
Surrounding Variants
2 papers
NM_013339.4
p.E345Q
c.1033G>C
33 papers
NM_013339.4
p.A333V
c.998C>T
1 paper
NM_013339.4
p.V330F
c.988G>T
1 paper
NM_013339.4
p.L329_V330Splc
c.987+43T>C
1 paper
NM_013339.4
p.K326_F327delFs
c.978_979delAT
1 paper
NM_013339.4
p.K323_G324insT
c.967_971ins3
1 paper
NM_013339.4
p.L318H
c.953T>A
1 paper
NM_013339.4
p.I317T
c.950T>C
1 paper
NM_013339.4
p.I317delFs
c.951delA
1 paper
NM_013339.4
p.A312P
c.934G>C
4 papers
NM_013339.4
p.S308R
c.924C>A
3 papers
NM_013339.4
p.S308R
c.924C>G
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