Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.Q79*

ALG1

203 papers

RefSeq Summary

The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [prov...

Pfam Domains

Glycos_transf_1aa 270–444UCSCGlycosyl transferases group 1

Gene Aliases

HGNC Name

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

HGNC Alias Symbols

HMT-1; HMAT1; CDG1K; Mat-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019109.5
p.Q79*
c.235C>T
Surrounding Variants
2 papers
NM_019109.5
p.E76K
c.226G>A
5 papers
NM_019109.5
p.H74L
c.221A>T
1 paper
NM_019109.5
p.Q84E
c.250C>G
1 paper
NM_019109.5
p.P73_E76del4
c.217_227del12
1 paper
NM_019109.5
p.V86A
c.257T>C
8 papers
NM_019109.5
p.S71F
c.212C>T
1 paper
NM_019109.5
p.G87R
c.259G>A
1 paper
NM_019109.5
p.G87R
c.259G>C
1 paper
NM_019109.5
p.N70Splc
c.209-1G>A
3 papers
NM_019109.5
p.N70Splc
c.209-1G>C
4 papers
NM_019109.5
p.L88V
c.262T>G
1 paper
NM_019109.5
p.T89R
c.266C>G
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."