Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.R247S

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
3 papers
NM_024740.2
p.R247S
c.741G>T
Surrounding Variants
3 papers
NM_024740.2
p.R247S
c.741G>C
1 paper
NM_024740.2
p.R247G
c.739A>G
1 paper
NM_024740.2
p.M244L
c.730A>T
1 paper
NM_024740.2
p.L242L
c.724C>T
1 paper
NM_024740.2
p.W254R
c.760T>C
5 papers
NM_024740.2
p.S255L
c.764C>T
1 paper
NM_024740.2
p.A238V
c.713C>T
1 paper
NM_024740.2
p.A238S
c.712G>T
1 paper
NM_024740.2
p.P265insFs
c.794dupC
1 paper
NM_024740.2
p.A280V
c.839C>T
1 paper
NM_024740.2
p.L277_N283insFs
c.831_849dup19
11 papers
NM_024740.2
p.Y287C
c.860A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."