Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.G227E

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
6 papers
NM_013339.4
p.G227E
c.680G>A
Surrounding Variants
3 papers
NM_013339.4
p.K226N
c.678G>C
3 papers
NM_013339.4
p.K226N
c.678G>T
2 papers
NM_013339.4
p.G227Splc
c.680+2T>G
1 paper
NM_013339.4
p.G222D
c.665G>A
1 paper
NM_013339.4
p.K220insFs
c.658dupA
1 paper
NM_013339.4
p.F219fs
c.655_656fs
1 paper
NM_013339.4
p.L214delFs
c.642delA
1 paper
NM_013339.4
p.H206H
c.618C>T
1 paper
NM_013339.4
p.K200Q
c.598A>C
2 papers
NM_013339.4
p.C194Y
c.581G>A
1 paper
NM_013339.4
p.L179R
c.536T>G
1 paper
NM_013339.4
p.L179V
c.535C>G
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