Varaico: Literature-Extracted Genetic Variants

Gene:DPM2
Variant:p.L63Q

DPM2

38 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

DPM2aa 5–79UCSCDolichol phosphate-mannose biosynthesis regulatory protein (DPM2)

Gene Aliases

HGNC Name

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

HGNC Alias Symbols

MGC21559; MGC111193

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003863.4
p.L63Q
c.188T>A
Surrounding Variants
1 paper
NM_003863.4
p.L61ins2
c.182_183ins6
1 paper
NM_003863.4
p.L59R
c.176T>G
3 papers
NM_003863.4
p.G58D
c.173G>A
1 paper
NM_003863.4
p.A52T
c.154G>A
1 paper
NM_003863.4
p.R47Q
c.140G>A
3 papers
NM_003863.4
p.R47*
c.139C>T
2 papers
NM_003863.4
p.P32L
c.95C>T
3 papers
NM_003863.4
p.G66E
c.197G>A
3 papers
NM_003863.4
p.Y71Y
c.213T>C
12 papers
NM_003863.4
p.T76S
c.226A>T
13 papers
NM_003863.4
p.T76S
c.227C>G
1 paper
NM_003863.4
p.L30V
c.88C>G
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