Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.R34*

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.R34*
c.100C>T
Surrounding Variants
1 paper
NM_024740.2
p.A24_E29delFs
c.70_85del16
1 paper
NM_024740.2
p.R42G
c.124C>G
1 paper
NM_024740.2
p.R42delFs
c.124_125delCG
1 paper
NM_024740.2
p.A24delFs
c.72delC
1 paper
NM_024740.2
p.E44V
c.131A>T
1 paper
NM_024740.2
p.E44Splc
c.131+5G>A
1 paper
NM_024740.2
p.A21fs
c.61_62fs
1 paper
NM_024740.2
p.A21delFs
c.61delC
2 papers
NM_024740.2
p.S17T
c.50G>C
1 paper
NM_024740.2
p.G12delFs
c.35delC
1 paper
NM_024740.2
p.G12fs
c.34_35fs
1 paper
NM_024740.2
p.G5G
c.15G>A
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