Varaico: Literature-Extracted Genetic Variants

Gene:DPM3
Variant:p.L115*

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
Selected Variant
4 papers
NM_018973.4
p.L115*
c.344T>G
NM_153741.2
p.L85*
c.254T>G
Surrounding Variants
12 papers
NM_153741.2
p.L85S
c.254T>C
NM_018973.4
p.L115S
c.344T>C
4 papers
NM_018973.4
p.L115*
c.344T>A
NM_153741.2
p.L85*
c.254T>A
1 paper
NM_153741.2
p.A83A
c.249C>A
3 papers
NM_153741.2
p.I78T
c.233T>C
2 papers
NM_153741.2
p.R72G
c.214C>G
1 paper
NM_153741.2
p.A70T
c.208G>A
1 paper
NM_153741.2
p.A53T
c.157G>A
1 paper
NM_153741.2
p.A49S
c.145G>T
3 papers
NM_018973.4
p.Y74C
c.221A>G
NM_153741.2
p.Y44C
c.131A>G
5 papers
NM_018973.4
p.P72A
c.214C>G
NM_153741.2
p.P42A
c.124C>G
1 paper
NM_018973.4
p.P70A
c.208C>G
2 papers
NM_153741.2
p.G27R
c.79G>C
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