Varaico: Literature-Extracted Genetic Variants

Gene:DPM3

DPM3

28 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

DPM3aa 1–91UCSCDolichol-phosphate mannosyltransferase subunit 3 (DPM3)

Gene Aliases

HGNC Name

dolichyl-phosphate mannosyltransferase subunit 3, regulatory

HGNC Alias Symbols

MGC34275; MGC125904; MGC125905

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
11 papers
NM_153741.2
p.L85S
c.254T>C
4 papers
NM_153741.2
p.L14P
c.41T>C
3 papers
NM_153741.2
p.P42A
c.124C>G
3 papers
NM_153741.2
p.I78T
c.233T>C
2 papers
NM_153741.2
p.G27R
c.79G>C
2 papers
NM_018973.4
p.P72A
c.214C>G
2 papers
NM_018973.4
p.Y74C
c.221A>G
2 papers
NM_153741.2
p.R72G
c.214C>G
2 papers
NM_018973.4
p.L115*
c.344T>G
2 papers
NM_153741.2
p.L85*
c.254T>G
2 papers
NM_018973.4
p.L115*
c.344T>A
2 papers
NM_153741.2
p.L85*
c.254T>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."