Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.H160Splc

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.H160Splc
c.478+3A>G
Surrounding Variants
1 paper
NM_024079.5
p.H160Splc
c.478+3A>T
2 papers
NM_024079.5
p.H160Splc
c.478+1G>A
1 paper
NM_024079.5
p.G154R
c.460G>C
1 paper
NM_024079.5
p.G154R
c.460G>A
1 paper
NM_024079.5
p.N152D
c.454A>G
1 paper
NM_024079.5
p.F143_W151ins3
c.429_452dup24
1 paper
NM_024079.5
p.L150insFs
c.449_450insCG
1 paper
NM_024079.5
p.L150L
c.448C>T
3 papers
NM_024079.5
p.L149R
c.446T>G
1 paper
NM_024079.5
p.V147I
c.439G>A
1 paper
NM_024079.5
p.S146P
c.436T>C
1 paper
NM_024079.5
p.P141insFs
c.421_422insA
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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."