Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.S444delFs

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.S444delFs
c.1332delG
Surrounding Variants
1 paper
NM_019109.5
p.E443K
c.1327G>A
1 paper
NM_019109.5
p.Q446K
c.1336C>A
1 paper
NM_019109.5
p.L441L
c.1321C>T
2 papers
NM_001330504.2
p.R337*
c.1009C>T
NM_019109.5
p.R448*
c.1342C>T
8 papers
NM_019109.5
p.R438W
c.1312C>T
1 paper
NM_019109.5
p.G432C
c.1294G>T
2 papers
NM_019109.5
p.A431E
c.1292C>A
2 papers
NM_019109.5
p.A431V
c.1292C>T
7 papers
NM_019109.5
p.D429E
c.1287T>A
7 papers
NM_019109.5
p.D429E
c.1287T>G
1 paper
NM_019109.5
p.D429H
c.1285G>C
1 paper
NM_019109.5
p.F427C
c.1280T>G
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