Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.M523V

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.M523V
c.1567A>G
Surrounding Variants
1 paper
NM_024740.2
p.N527K
c.1581T>G
1 paper
NM_024740.2
p.N527K
c.1581T>A
1 paper
NM_024740.2
p.L528R
c.1583T>G
1 paper
NM_024740.2
p.R517L
c.1550G>T
1 paper
NM_024740.2
p.R517delFs
c.1549delG
9 papers
NM_024740.2
p.E530K
c.1588G>A
NM_001077690.1
p.E523K
c.1567G>A
NM_001077691.2
p.E359K
c.1075G>A
2 papers
NM_024740.2
p.P506L
c.1517C>T
1 paper
NM_024740.2
p.N491delFs
c.1472delT
2 papers
NM_024740.2
p.L487P
c.1460T>C
2 papers
NM_024740.2
p.R455*
c.1363C>T
1 paper
NM_024740.2
p.Y454Y
c.1362C>T
1 paper
NM_024740.2
p.R435R
c.1305C>A
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."