Varaico: Literature-Extracted Genetic Variants

Gene:MPDU1

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
1–12 of 43 variants
11 papers
NM_004870.4
p.G73E
c.218G>A
7 papers
NM_004870.4
p.A229T
c.685G>A
4 papers
NM_004870.4
p.L74S
c.221T>C
4 papers
NM_004870.4
p.L119P
c.356T>C
3 papers
NM_004870.4
p.G104S
c.310G>A
3 papers
NM_004870.4
p.L171delFs
c.511delC
2 papers
NM_004870.4
p.M1T
c.2T>C
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
2 papers
NM_004870.4
p.G88R
c.262G>A
2 papers
NM_004870.4
p.G88R
c.262G>C
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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."