Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.Q391_H392Splc

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
5 papers
NM_024740.2
p.Q391_H392Splc
c.1173+2T>A
Surrounding Variants
1 paper
NM_024740.2
p.Q391_H392Splc
c.1173+18G>A
1 paper
NM_024740.2
p.L381insFs
c.1142dupT
1 paper
NM_024740.2
p.L381delFs
c.1141delG
1 paper
NM_024740.2
p.L381fs
c.1141_1142fs
1 paper
NM_024740.2
p.F373C
c.1118T>G
1 paper
NM_024740.2
p.L372F
c.1114C>T
2 papers
NM_024740.2
p.R370K
c.1109G>A
2 papers
NM_024740.2
p.E368K
c.1102G>A
1 paper
NM_024740.2
p.H366H
c.1098C>T
1 paper
NM_024740.2
p.I363_Q364delFs
c.1088_1091del4
1 paper
NM_024740.2
p.I359V
c.1075A>G
1 paper
NM_024740.2
p.P346P
c.1038G>A
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