Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.S267N

ALG1

203 papers

RefSeq Summary

The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [prov...

Pfam Domains

Glycos_transf_1aa 270–444UCSCGlycosyl transferases group 1

Gene Aliases

HGNC Name

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

HGNC Alias Symbols

HMT-1; HMAT1; CDG1K; Mat-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_019109.5
p.S267N
c.800G>A
Surrounding Variants
1 paper
NM_019109.5
p.T271T
c.813G>A
1 paper
NM_019109.5
p.L273F
c.817C>T
2 papers
NM_019109.5
p.E275*
c.823G>T
1 paper
NM_019109.5
p.R276G
c.826C>G
11 papers
NM_019109.5
p.R276W
c.826C>T
36 papers
NM_019109.5
p.S258L
c.773C>T
1 paper
NM_019109.5
p.R276Q
c.827G>A
1 paper
NM_019109.5
p.R276L
c.827G>T
1 paper
NM_019109.5
p.R257Q
c.770G>A
1 paper
NM_019109.5
p.R257W
c.769C>T
1 paper
NM_019109.5
p.L279V
c.835C>G
2 papers
NM_019109.5
p.T255T
c.765G>A
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."