Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.R237C

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.R237C
c.709C>T
Surrounding Variants
1 paper
NM_024079.5
p.R237H
c.710G>A
1 paper
NM_024079.5
p.V238A
c.713T>C
1 paper
NM_024079.5
p.L241R
c.722T>G
1 paper
NM_024079.5
p.G242E
c.725G>A
1 paper
NM_024079.5
p.V244A
c.731T>C
2 papers
NM_024079.5
p.R229*
c.685C>T
1 paper
NM_024079.5
p.L247L
c.739T>C
1 paper
NM_024079.5
p.D225D
c.675T>C
1 paper
NM_024079.5
p.A250P
c.748G>C
1 paper
NM_024079.5
p.L251I
c.751C>A
1 paper
NM_024079.5
p.S252P
c.754T>C
1 paper
NM_024079.5
p.S252insFs
c.755dupC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."