Varaico: Literature-Extracted Genetic Variants

Gene:MPDU1
Variant:p.H178del1

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.H178del1
c.532_534delCAC
Surrounding Variants
1 paper
NM_004870.4
p.L171fs
c.511_512fs
3 papers
NM_004870.4
p.L171delFs
c.511delC
1 paper
NM_004870.4
p.A187V
c.560C>T
1 paper
NM_004870.4
p.V190delFs
c.570delC
1 paper
NM_004870.4
p.I201V
c.601A>G
1 paper
NM_004870.4
p.Q206_E207Splc
c.618+14C>T
2 papers
NM_004870.4
p.G168E
c.503G>A
1 paper
NM_004870.4
p.N161S
c.482A>G
2 papers
NM_004870.4
p.L157P
c.470T>C
1 paper
NM_004870.4
p.V154V
c.462C>T
1 paper
NM_004870.4
p.L144delFs
c.430delC
2 papers
NM_004870.4
p.A135P
c.403G>C
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