Varaico: Literature-Extracted Genetic Variants

Gene:ALG12
Variant:p.L390V

ALG12

129 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide p...

Pfam Domains

Glyco_transf_22aa 15–407UCSCAlg9-like mannosyltransferase family

Gene Aliases

HGNC Name

ALG12 alpha-1,6-mannosyltransferase

HGNC Alias Symbols

ECM39; CDG1G

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024105.4
p.L390V
c.1168C>G
Surrounding Variants
7 papers
NM_024105.4
p.I393V
c.1177A>G
1 paper
NM_024105.4
p.W412_R413insCGT
c.1234_1238ins9
1 paper
NM_024105.4
p.Q386fs
c.1156_1157fs
1 paper
NM_024105.4
p.Q386insFs
c.1156_1157insC
1 paper
NM_024105.4
p.P385P
c.1155C>T
1 paper
NM_024105.4
p.R378S
c.1134G>T
1 paper
NM_024105.4
p.R378S
c.1134G>C
1 paper
NM_024105.4
p.A375T
c.1123G>A
1 paper
NM_024105.4
p.P371R
c.1112C>G
1 paper
NM_024105.4
p.R413Splc
c.1239-1G>C
4 papers
NM_024105.4
p.Y414*
c.1242C>G
1 paper
NM_024105.4
p.Y414*
c.1242C>A
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