Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.A68insFs

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.A68insFs
c.203dupC
Surrounding Variants
1 paper
NM_024740.2
p.L70_F85del16
c.208_254del48
1 paper
NM_024740.2
p.K49I
c.146A>T
1 paper
NM_024740.2
p.E44V
c.131A>T
1 paper
NM_024740.2
p.E44Splc
c.132-13T>G
1 paper
NM_024740.2
p.E44Splc
c.132-18T>G
1 paper
NM_024740.2
p.P90_T91Splc
c.270+560T>C
1 paper
NM_024740.2
p.E44Splc
c.131+5G>A
1 paper
NM_024740.2
p.E44V
c.131A>T
1 paper
NM_024740.2
p.R42delFs
c.124_125delCG
1 paper
NM_024740.2
p.R42G
c.124C>G
1 paper
NM_024740.2
p.R34*
c.100C>T
1 paper
NM_024740.2
p.A24_E29delFs
c.70_85del16
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