Varaico: Literature-Extracted Genetic Variants

Gene:DPM2
Variant:p.L30V

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.L30V
c.88C>G
Surrounding Variants
8 papers
NM_003863.4
p.Y23C
c.68A>G
1 paper
NM_003863.4
p.V14V
c.42C>T
2 papers
NM_003863.4
p.G10E
c.29G>A
1 paper
NM_003863.4
p.T3K
c.8C>A
4 papers
NM_003863.4
p.M1_A2Splc
c.4-1G>C
1 paper
NM_003863.4
p.M1R
c.2T>G
2 papers
NM_003863.4
p.P32L
c.95C>T
3 papers
NM_003863.4
p.R47*
c.139C>T
1 paper
NM_003863.4
p.R47Q
c.140G>A
1 paper
NM_003863.4
p.A52T
c.154G>A
3 papers
NM_003863.4
p.G58D
c.173G>A
1 paper
NM_003863.4
p.L59R
c.176T>G
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