Varaico: Literature-Extracted Genetic Variants

Gene:DPM3
Variant:p.L11delFs

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
1 paper
NM_153741.2
p.L11delFs
c.32delA
Surrounding Variants
4 papers
NM_153741.2
p.L14P
c.41T>C
1 paper
NM_153741.2
p.L8insFs
c.22_23insA
1 paper
NM_153741.2
p.V19L
c.55G>T
1 paper
NM_153741.2
p.V19L
c.55G>C
1 paper
NM_153741.2
p.V19V
c.57G>A
1 paper
NM_153741.2
p.M1delFs
c.3delC
1 paper
NM_153741.2
p.T22_T23insA
c.64_68ins3
2 papers
NM_153741.2
p.G27R
c.79G>C
1 paper
NM_018973.4
p.P70A
c.208C>G
5 papers
NM_018973.4
p.P72A
c.214C>G
NM_153741.2
p.P42A
c.124C>G
3 papers
NM_018973.4
p.Y74C
c.221A>G
NM_153741.2
p.Y44C
c.131A>G
1 paper
NM_153741.2
p.A49S
c.145G>T
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