Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.L20R

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
2 papers
NM_019109.5
p.L20R
c.59T>G
Surrounding Variants
1 paper
NM_019109.5
p.L19L
c.57G>A
1 paper
NM_019109.5
p.K24_R30delFs
c.70_89del20
1 paper
NM_019109.5
p.P16T
c.46C>A
1 paper
NM_019109.5
p.P16S
c.46C>T
1 paper
NM_019109.5
p.W26*
c.77G>A
1 paper
NM_019109.5
p.L14P
c.41T>C
1 paper
NM_019109.5
p.W26*
c.78G>A
1 paper
NM_019109.5
p.L13_P16del0
c.37_48del12
1 paper
NM_019109.5
p.L11P
c.32T>C
1 paper
NM_019109.5
p.A10E
c.29C>A
1 paper
NM_019109.5
p.A10T
c.28G>A
1 paper
NM_019109.5
p.L9P
c.26T>C
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