Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.L116F

ALG8

142 papers

RefSeq Summary

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-lin...

Pfam Domains

Alg6_Alg8aa 21–302UCSCALG6, ALG8 glycosyltransferase family

Gene Aliases

HGNC Name

ALG8 alpha-1,3-glucosyltransferase

HGNC Alias Symbol

MGC2840

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024079.5
p.L116F
c.346C>T
Surrounding Variants
1 paper
NM_024079.5
p.F117fs
c.349_350fs
1 paper
NM_024079.5
p.M113I
c.339G>T
1 paper
NM_024079.5
p.M113I
c.339G>C
1 paper
NM_024079.5
p.M113I
c.339G>A
1 paper
NM_024079.5
p.R122H
c.365G>A
1 paper
NM_024079.5
p.F108C
c.323T>G
2 papers
NM_024079.5
p.E123Splc
c.368+2T>G
1 paper
NM_024079.5
p.R107S
c.321A>T
1 paper
NM_024079.5
p.R107S
c.321A>C
1 paper
NM_024079.5
p.R107K
c.320G>A
1 paper
NM_024079.5
p.N96_Q106del11
c.286_317del33
1 paper
NM_024079.5
p.R107G
c.319A>G
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