Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.L117F

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.L117F
c.351A>C
Surrounding Variants
1 paper
NM_013339.4
p.L117F
c.351A>T
1 paper
NM_013339.4
p.D120G
c.359A>G
1 paper
NM_013339.4
p.Y124D
c.370T>G
1 paper
NM_013339.4
p.V128A
c.383T>C
1 paper
NM_013339.4
p.L130L
c.390G>A
23 papers
NM_013339.4
p.Y131H
c.391T>C
1 paper
NM_013339.4
p.E137*
c.409G>T
1 paper
NM_013339.4
p.K143E
c.427A>G
1 paper
NM_013339.4
p.K143N
c.429G>C
1 paper
NM_013339.4
p.K143N
c.429G>T
1 paper
NM_013339.4
p.K143_I144Splc
c.430-17A>G
1 paper
NM_013339.4
p.K143_I144Splc
c.430-1G>T
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