Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.N222S

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
13 papers
NM_024079.5
p.N222S
c.665A>G
Surrounding Variants
2 papers
NM_024079.5
p.D225Splc
c.673+4A>G
1 paper
NM_024079.5
p.S216C
c.647C>G
1 paper
NM_024079.5
p.S216insFs
c.646_647insA
1 paper
NM_024079.5
p.A208V
c.623C>T
1 paper
NM_024079.5
p.A206T
c.616G>A
2 papers
NM_024079.5
p.F192_I201del10
c.574_602del30
3 papers
NM_024079.5
p.L195P
c.584T>C
1 paper
NM_024079.5
p.R184G
c.550A>G
1 paper
NM_024079.5
p.Q182_K183Splc
c.547-1G>A
1 paper
NM_024079.5
p.D225D
c.675T>C
2 papers
NM_024079.5
p.R229*
c.685C>T
1 paper
NM_024079.5
p.R237C
c.709C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."