Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.G60_F61del1

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.G60_F61del1
c.180_182delCTT
Surrounding Variants
1 paper
NM_019109.5
p.H59H
c.177C>T
1 paper
NM_019109.5
p.S62*
c.185C>A
1 paper
NM_019109.5
p.T64A
c.190A>G
4 papers
NM_019109.5
p.T64N
c.191C>A
1 paper
NM_019109.5
p.N70H
c.208A>C
9 papers
NM_019109.5
p.Q50R
c.149A>G
1 paper
NM_019109.5
p.N70S
c.209A>G
1 paper
NM_019109.5
p.N70Splc
c.208+4A>C
1 paper
NM_019109.5
p.R48H
c.143G>A
1 paper
NM_019109.5
p.S46N
c.137G>A
2 papers
NM_019109.5
p.G44S
c.130G>A
1 paper
NM_019109.5
p.G44delFs
c.130delG
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