Varaico: Literature-Extracted Genetic Variants

Gene:ALG12
Variant:p.A198G

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.A198G
c.593C>G
Surrounding Variants
1 paper
NM_024105.4
p.R202*
c.604C>T
1 paper
NM_024105.4
p.V206I
c.616G>A
1 paper
NM_024105.4
p.L189P
c.566T>C
4 papers
NM_024105.4
p.C188Y
c.563G>A
6 papers
NM_024105.4
p.R211C
c.631C>T
1 paper
NM_024105.4
p.F183S
c.548T>C
1 paper
NM_024105.4
p.V214I
c.640G>A
1 paper
NM_024105.4
p.P215L
c.644C>T
1 paper
NM_024105.4
p.A179T
c.535G>A
1 paper
NM_024105.4
p.F178L
c.534C>G
1 paper
NM_024105.4
p.F178L
c.534C>A
1 paper
NM_024105.4
p.F178L
c.532T>C
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."