Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.Y57*

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.Y57*
c.171T>A
Surrounding Variants
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
2 papers
NM_013339.4
p.Y78F
c.233A>T
1 paper
NM_013339.4
p.H79R
c.236A>G
6 papers
NM_013339.4
p.A84T
c.250G>A
1 paper
NM_013339.4
p.A84V
c.251C>T
14 papers
NM_013339.4
p.V86Splc
c.257+5G>A
1 paper
NM_013339.4
p.V86Splc
c.258-1G>C
1 paper
NM_013339.4
p.N91K
c.273T>A
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