Varaico: Literature-Extracted Genetic Variants

Gene:MPDU1
Variant:p.G88R

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
2 papers
NM_004870.4
p.G88R
c.262G>C
Surrounding Variants
2 papers
NM_004870.4
p.G88R
c.262G>A
4 papers
NM_004870.4
p.L74S
c.221T>C
11 papers
NM_004870.4
p.G73E
c.218G>A
1 paper
NM_004870.4
p.I50T
c.149T>C
3 papers
NM_004870.4
p.G104S
c.310G>A
4 papers
NM_004870.4
p.L119P
c.356T>C
2 papers
NM_004870.4
p.Q126P
c.377A>C
1 paper
NM_004870.4
p.G130D
c.389G>A
2 papers
NM_004870.4
p.G130D
c.389G>A
2 papers
NM_004870.4
p.V131V
c.393C>T
2 papers
NM_004870.4
p.A135P
c.403G>C
1 paper
NM_004870.4
p.L144delFs
c.430delC
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