Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.S432*

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.S432*
c.1295C>G
Surrounding Variants
1 paper
NM_024740.2
p.S432*
c.1295C>A
1 paper
NM_024740.2
p.L422_G429delFs
c.1265_1286del22
1 paper
NM_024740.2
p.R435R
c.1305C>A
1 paper
NM_024740.2
p.Q391_H392Splc
c.1174-46G>A
1 paper
NM_024740.2
p.Y454Y
c.1362C>T
2 papers
NM_024740.2
p.R455*
c.1363C>T
2 papers
NM_024740.2
p.L487P
c.1460T>C
1 paper
NM_024740.2
p.N491delFs
c.1472delT
2 papers
NM_024740.2
p.P506L
c.1517C>T
1 paper
NM_024740.2
p.R517L
c.1550G>T
1 paper
NM_024740.2
p.R517delFs
c.1549delG
1 paper
NM_024740.2
p.M523V
c.1567A>G
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