Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.R33W

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
1 paper
NM_019109.5
p.R33W
c.97C>T
Surrounding Variants
2 papers
NM_019109.5
p.A31A
c.93G>A
1 paper
NM_019109.5
p.A37_R48del12
c.109_143del36
1 paper
NM_019109.5
p.W26*
c.78G>A
1 paper
NM_019109.5
p.W26*
c.77G>A
1 paper
NM_019109.5
p.L40R
c.119T>G
1 paper
NM_019109.5
p.G41_D42Fs
c.123_126delinsTGGTGFs
1 paper
NM_019109.5
p.K24_R30delFs
c.70_89del20
1 paper
NM_019109.5
p.G44delFs
c.130delG
2 papers
NM_019109.5
p.G44S
c.130G>A
2 papers
NM_019109.5
p.L20R
c.59T>G
1 paper
NM_019109.5
p.L19L
c.57G>A
1 paper
NM_019109.5
p.S46N
c.137G>A
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