Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.W227*

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
2 papers
NM_024740.2
p.W227*
c.681G>A
Surrounding Variants
2 papers
NM_024740.2
p.W227*
c.680G>A
1 paper
NM_024740.2
p.G226A
c.677G>C
1 paper
NM_024740.2
p.S230R
c.688A>C
1 paper
NM_024740.2
p.S230R
c.690T>G
1 paper
NM_024740.2
p.S230R
c.690T>A
2 papers
NM_024740.2
p.A231T
c.691G>A
5 papers
NM_024740.2
p.A232P
c.694G>C
1 paper
NM_024740.2
p.A220delFs
c.658delC
1 paper
NM_024740.2
p.L217V
c.649C>G
1 paper
NM_024740.2
p.I202R
c.605T>G
1 paper
NM_024740.2
p.L201F
c.603G>T
1 paper
NM_024740.2
p.L201F
c.603G>C
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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."