Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.K132delFs

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.K132delFs
c.396delT
Surrounding Variants
7 papers
NM_024079.5
p.K132_V133insFs
c.396_397insA
3 papers
NM_024079.5
p.V133fs
c.397_398fs
1 paper
NM_024079.5
p.V133fs
c.397_398fs
3 papers
NM_024079.5
p.T138fs
c.412_413fs
7 papers
NM_024079.5
p.T138delFs
c.413delG
1 paper
NM_024079.5
p.E139*
c.415G>T
1 paper
NM_024079.5
p.K140K
c.420G>A
1 paper
NM_024079.5
p.P141insFs
c.421_422insA
1 paper
NM_024079.5
p.C124delFs
c.371delC
1 paper
NM_024079.5
p.C124R
c.370T>C
1 paper
NM_024079.5
p.C124fs
c.370_371fs
1 paper
NM_024079.5
p.S146P
c.436T>C
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