Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.R276W

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
11 papers
NM_019109.5
p.R276W
c.826C>T
Surrounding Variants
1 paper
NM_019109.5
p.R276G
c.826C>G
1 paper
NM_019109.5
p.R276Q
c.827G>A
1 paper
NM_019109.5
p.R276L
c.827G>T
2 papers
NM_019109.5
p.E275*
c.823G>T
1 paper
NM_019109.5
p.L279V
c.835C>G
1 paper
NM_019109.5
p.L273F
c.817C>T
1 paper
NM_019109.5
p.T271T
c.813G>A
1 paper
NM_019109.5
p.L280L
c.840G>C
6 papers
NM_019109.5
p.V281F
c.841G>T
1 paper
NM_019109.5
p.V281_S282del1
c.842_844delTCA
8 papers
NM_019109.5
p.S267N
c.800G>A
2 papers
NM_019109.5
p.S285N
c.854G>A
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