Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.G384R

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
5 papers
NM_019109.5
p.G384R
c.1150G>A
Surrounding Variants
5 papers
NM_019109.5
p.G384R
c.1150G>C
1 paper
NM_019109.5
p.F383L
c.1149C>A
1 paper
NM_019109.5
p.F383L
c.1149C>G
2 papers
NM_019109.5
p.F383F
c.1149C>T
1 paper
NM_019109.5
p.F383L
c.1147T>C
2 papers
NM_019109.5
p.M382K
c.1145T>A
5 papers
NM_019109.5
p.M382T
c.1145T>C
1 paper
NM_019109.5
p.M382V
c.1144A>G
1 paper
NM_019109.5
p.D381insFs
c.1141_1142insTC
3 papers
NM_019109.5
p.P388S
c.1162C>T
1 paper
NM_019109.5
p.V389M
c.1165G>A
1 paper
NM_019109.5
p.C390Y
c.1169G>A
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