Varaico: Literature-Extracted Genetic Variants

Gene:MPDU1
Variant:p.M1_A2ins1

MPDU1

63 papers

RefSeq Summary

This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosp...

Pfam Domains

PQ-loopaa 42–102UCSCPQ loop repeat
PQ-loopaa 153–213UCSCPQ loop repeat

Gene Aliases

HGNC Name

mannose-P-dolichol utilization defect 1

HGNC Alias Symbols

SL15; Lec35; PQLC5; CDGIf; SLC66A5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004870.4
p.M1_A2ins1
c.3_4insGCC
Surrounding Variants
2 papers
NM_004870.4
p.M1T
c.2T>C
1 paper
NM_004870.4
p.G7E
c.20G>A
1 paper
NM_004870.4
p.Y23C
c.68A>G
2 papers
NM_004870.4
p.Y23delFs
c.69delC
2 papers
NM_004870.4
p.Y23*
c.69C>A
2 papers
NM_004870.4
p.Y23*
c.69C>G
1 paper
NM_004870.4
p.L33P
c.98T>C
1 paper
NM_004870.4
p.V35Splc
c.103+4A>C
1 paper
NM_004870.4
p.V35Splc
c.103+92A>T
1 paper
NM_004870.4
p.I50T
c.149T>C
11 papers
NM_004870.4
p.G73E
c.218G>A
4 papers
NM_004870.4
p.L74S
c.221T>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."