Varaico: Literature-Extracted Genetic Variants

Gene:ALG14

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
1–12 of 42 variants
9 papers
NM_144988.4
p.P65L
c.194C>T
9 papers
NM_144988.4
p.R104*
c.310C>T
7 papers
NM_144988.4
p.D74N
c.220G>A
6 papers
NM_144988.4
p.R109Q
c.326G>A
5 papers
NM_144988.4
p.A11T
c.31G>A
5 papers
NM_144988.4
p.S38I
c.113G>T
4 papers
NM_144988.4
p.G46Splc
c.136+1G>C
4 papers
NM_144988.4
p.V141G
c.422T>G
3 papers
NM_144988.4
p.I175N
c.524T>A
2 papers
NM_144988.4
p.S94G
c.280A>G
2 papers
NM_144988.4
p.G145R
c.433G>C
2 papers
NM_144988.4
p.G145R
c.433G>A
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."