Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.S308R

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
4 papers
NM_013339.4
p.S308R
c.924C>A
Surrounding Variants
3 papers
NM_013339.4
p.S308R
c.924C>G
1 paper
NM_013339.4
p.S308N
c.923G>A
3 papers
NM_013339.4
p.S308R
c.922A>C
1 paper
NM_013339.4
p.L307*
c.920T>A
1 paper
NM_013339.4
p.T305M
c.914C>T
1 paper
NM_013339.4
p.A312P
c.934G>C
19 papers
NM_013339.4
p.S304F
c.911C>T
2 papers
NM_013339.4
p.C303del1
c.907_908delTGT
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.L318H
c.953T>A
1 paper
NM_013339.4
p.K323_G324insT
c.967_971ins3
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