Varaico: Literature-Extracted Genetic Variants

Gene:DPM1
Variant:p.I164_S165delFs

DPM1

81 papers

RefSeq Summary

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-an...

Pfam Domains

Glycos_transf_2aa 28–199UCSCGlycosyl transferase family 2

Gene Aliases

HGNC Name

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

HGNC Alias Symbols

MPDS; CDGIE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003859.3
p.I164_S165delFs
c.490_493del4
Surrounding Variants
1 paper
NM_003859.3
p.S165insFs
c.493_494insAT
1 paper
NM_003859.3
p.S165T
c.494G>C
1 paper
NM_003859.3
p.I164fs
c.490_491fs
1 paper
NM_003859.3
p.G153S
c.457G>A
7 papers
NM_003859.3
p.G152V
c.455G>T
1 paper
NM_003859.3
p.G145E
c.434G>A
1 paper
NM_003859.3
p.K136fs
c.406_407fs
1 paper
NM_003859.3
p.S165Splc
c.495-231A>T
2 papers
NM_001317034.1
p.R192S
c.576G>C
NM_001317035.1
p.S192Splc
c.575+1G>C
NM_003859.3
p.S165Splc
c.495-195G>C
1 paper
NM_003859.3
p.S165T
c.494G>C
1 paper
NM_003859.3
p.L171fs
c.511_512fs
1 paper
NM_003859.3
p.R177G
c.529A>G
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