Varaico: Literature-Extracted Genetic Variants

Gene:ALG12

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
1–12 of 138 variants
16 papers
NM_024105.4
p.R146Q
c.437G>A
11 papers
NM_024105.4
p.T67M
c.200C>T
10 papers
NM_024105.4
p.N334delFs
c.1001delT
9 papers
NM_024105.4
p.G101R
c.301G>A
9 papers
NM_024105.4
p.F142V
c.424T>G
9 papers
NM_024105.4
p.L158P
c.473T>C
8 papers
NM_024105.4
p.G101R
c.301G>C
7 papers
NM_024105.4
p.I393V
c.1177A>G
6 papers
NM_024105.4
p.R211C
c.631C>T
6 papers
NM_024105.4
p.S275N
c.824G>A
6 papers
NM_024105.4
p.R311C
c.931C>T
6 papers
NM_024105.4
p.N334fs
c.1000_1001fs
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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."