Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.L453V

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
5 papers
NM_013339.4
p.L453V
c.1357C>G
Surrounding Variants
1 paper
NM_013339.4
p.S446insFs
c.1338dupA
1 paper
NM_013339.4
p.L444del1
c.1330_1332delCTT
1 paper
NM_013339.4
p.Q464*
c.1390C>T
1 paper
NM_013339.4
p.P467S
c.1399C>T
1 paper
NM_013339.4
p.P467L
c.1400C>T
1 paper
NM_013339.4
p.P467P
c.1401G>A
1 paper
NM_013339.4
p.V472L
c.1414G>C
1 paper
NM_013339.4
p.V472L
c.1414G>T
6 papers
NM_013339.4
p.S478P
c.1432T>C
1 paper
NM_013339.4
p.C479F
c.1436G>T
2 papers
NM_013339.4
p.N481S
c.1442A>G
1 paper
NM_013339.4
p.L483P
c.1448T>C
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