Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.M1I

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.M1I
c.3G>T
Surrounding Variants
1 paper
NM_019109.5
p.A2ins1
c.4_5insTAC
1 paper
NM_019109.5
p.M1L
c.1A>C
1 paper
NM_019109.5
p.M1L
c.1A>T
2 papers
NM_019109.5
p.A3D
c.8C>A
1 paper
NM_019109.5
p.C5_L6delFs
c.13_16del4
4 papers
NM_019109.5
p.C5*
c.15C>A
2 papers
NM_019109.5
p.V7insFs
c.19dupG
3 papers
NM_019109.5
p.V7I
c.19G>A
1 paper
NM_019109.5
p.L9V
c.25C>G
1 paper
NM_019109.5
p.L9P
c.26T>C
1 paper
NM_019109.5
p.A10T
c.28G>A
1 paper
NM_019109.5
p.A10E
c.29C>A
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