Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.P123A

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.P123A
c.367C>G
Surrounding Variants
1 paper
NM_024740.2
p.A124_A125del2
c.370_374del6
1 paper
NM_024740.2
p.T133A
c.397A>G
1 paper
NM_024740.2
p.N134delFs
c.400delT
1 paper
NM_024740.2
p.K135N
c.405G>C
1 paper
NM_024740.2
p.K135_I136Splc
c.405+5G>A
1 paper
NM_024740.2
p.A108V
c.323C>T
1 paper
NM_024740.2
p.A108insFs
c.323_324insT
1 paper
NM_024740.2
p.Q101delFs
c.301delG
1 paper
NM_024740.2
p.P90_T91Splc
c.270+560T>C
1 paper
NM_024740.2
p.L70_F85del16
c.208_254del48
1 paper
NM_024740.2
p.A68insFs
c.203dupC
1 paper
NM_024740.2
p.K49I
c.146A>T
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