Varaico: Literature-Extracted Genetic Variants

Gene:ALG1

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
1–12 of 253 variants
36 papers
NM_019109.5
p.S258L
c.773C>T
12 papers
NM_019109.5
p.A360V
c.1079C>T
11 papers
NM_019109.5
p.R276W
c.826C>T
9 papers
NM_019109.5
p.Q50R
c.149A>G
9 papers
NM_019109.5
p.S150R
c.450C>A
9 papers
NM_019109.5
p.C396Splc
c.1187+3A>G
8 papers
NM_019109.5
p.S71F
c.212C>T
8 papers
NM_019109.5
p.S150R
c.448A>C
8 papers
NM_019109.5
p.S150R
c.450C>G
8 papers
NM_019109.5
p.S267N
c.800G>A
8 papers
NM_019109.5
p.R438W
c.1312C>T
7 papers
NM_019109.5
p.G145D
c.434G>A
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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."