Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.V364V

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.V364V
c.1092C>G
Surrounding Variants
1 paper
NM_019109.5
p.C365*
c.1095T>A
1 paper
NM_019109.5
p.L366fs
c.1096_1097fs
1 paper
NM_019109.5
p.L366fs
c.1096_1097fs
3 papers
NM_019109.5
p.G363A
c.1088G>C
1 paper
NM_019109.5
p.G363_V364delFs
c.1089_1092del4
3 papers
NM_019109.5
p.L366Q
c.1097T>A
2 papers
NM_019109.5
p.H367Y
c.1099C>T
3 papers
NM_019109.5
p.H367Q
c.1101C>A
3 papers
NM_019109.5
p.H367Q
c.1101C>G
1 paper
NM_019109.5
p.T368M
c.1103C>T
12 papers
NM_019109.5
p.A360V
c.1079C>T
3 papers
NM_019109.5
p.S369insFs
c.1106_1107insT
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