Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.M1I

ALG9

111 papers

RefSeq Summary

This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multip...

Pfam Domains

Glyco_transf_22aa 60–482UCSCAlg9-like mannosyltransferase family

Gene Aliases

HGNC Name

ALG9 alpha-1,2-mannosyltransferase

HGNC Previous Symbol

DIBD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024740.2
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_024740.2
p.M1insFs
c.2dupT
1 paper
NM_024740.2
p.M1L
c.1A>T
1 paper
NM_024740.2
p.M1V
c.1A>G
1 paper
NM_024740.2
p.M1L
c.1A>C
1 paper
NM_024740.2
p.A2A
c.6T>C
1 paper
NM_024740.2
p.G5G
c.15G>A
1 paper
NM_024740.2
p.G12fs
c.34_35fs
1 paper
NM_024740.2
p.G12delFs
c.35delC
2 papers
NM_024740.2
p.S17T
c.50G>C
1 paper
NM_024740.2
p.A21delFs
c.61delC
1 paper
NM_024740.2
p.A21fs
c.61_62fs
1 paper
NM_024740.2
p.A24delFs
c.72delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."