Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.C396*

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
7 papers
NM_019109.5
p.C396*
c.1188T>A
Surrounding Variants
7 papers
NM_019109.5
p.C396Splc
c.1187+1G>A
9 papers
NM_019109.5
p.C396Splc
c.1187+3A>G
1 paper
NM_019109.5
p.K395R
c.1184A>G
4 papers
NM_019109.5
p.F394L
c.1182C>A
4 papers
NM_019109.5
p.F394L
c.1182C>G
4 papers
NM_019109.5
p.F394L
c.1180T>C
2 papers
NM_019109.5
p.A391V
c.1172C>T
1 paper
NM_019109.5
p.C390Y
c.1169G>A
1 paper
NM_019109.5
p.V389M
c.1165G>A
3 papers
NM_019109.5
p.P388S
c.1162C>T
5 papers
NM_019109.5
p.G384R
c.1150G>A
5 papers
NM_019109.5
p.G384R
c.1150G>C
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