Varaico: Literature-Extracted Genetic Variants

Gene:ALG14
Variant:p.I175N

ALG14

56 papers

RefSeq Summary

This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplas...

Pfam Domains

Alg14aa 39–215UCSCOligosaccharide biosynthesis protein Alg14 like

Gene Aliases

HGNC Name

ALG14 UDP-N-acetylglucosaminyltransferase subunit

HGNC Alias Symbol

MGC19780

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_144988.4
p.I175N
c.524T>A
Surrounding Variants
1 paper
NM_144988.4
p.V178delFs
c.532delC
1 paper
NM_144988.4
p.M183L
c.547A>C
1 paper
NM_144988.4
p.M183T
c.548T>C
1 paper
NM_144988.4
p.G163A
c.488G>C
1 paper
NM_144988.4
p.A156V
c.467C>T
1 paper
NM_144988.4
p.V154L
c.460G>T
1 paper
NM_144988.4
p.V154L
c.460G>C
2 papers
NM_144988.4
p.V197G
c.590T>G
2 papers
NM_144988.4
p.G145R
c.433G>C
2 papers
NM_144988.4
p.G145R
c.433G>A
1 paper
NM_144988.4
p.C143Y
c.428G>A
4 papers
NM_144988.4
p.V141G
c.422T>G
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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."