Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.G160S

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.G160S
c.478G>A
Surrounding Variants
1 paper
NM_019109.5
p.Y161C
c.482A>G
1 paper
NM_019109.5
p.Y161Y
c.483C>T
1 paper
NM_019109.5
p.N158D
c.472A>G
1 paper
NM_019109.5
p.I163I
c.489C>A
1 paper
NM_019109.5
p.D155N
c.463G>A
1 paper
NM_019109.5
p.L166P
c.497T>C
1 paper
NM_019109.5
p.L166R
c.497T>G
1 paper
NM_019109.5
p.V153I
c.457G>A
9 papers
NM_019109.5
p.S150R
c.450C>A
8 papers
NM_019109.5
p.S150R
c.450C>G
1 paper
NM_019109.5
p.G169D
c.506G>A
1 paper
NM_019109.5
p.S150N
c.449G>A
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