Varaico: Literature-Extracted Genetic Variants

Gene:DPM2

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
1–12 of 19 variants
13 papers
NM_003863.4
p.T76S
c.227C>G
12 papers
NM_003863.4
p.T76S
c.226A>T
8 papers
NM_003863.4
p.Y23C
c.68A>G
4 papers
NM_003863.4
p.M1_A2Splc
c.4-1G>C
3 papers
NM_003863.4
p.R47*
c.139C>T
3 papers
NM_003863.4
p.G58D
c.173G>A
3 papers
NM_003863.4
p.G66E
c.197G>A
3 papers
NM_003863.4
p.Y71Y
c.213T>C
2 papers
NM_003863.4
p.G10E
c.29G>A
2 papers
NM_003863.4
p.P32L
c.95C>T
1 paper
NM_003863.4
p.M1R
c.2T>G
1 paper
NM_003863.4
p.T3K
c.8C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."