Varaico: Literature-Extracted Genetic Variants

Gene:DPM1
Variant:p.H124R

DPM1

81 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

Glycos_transf_2aa 28–199UCSCGlycosyl transferase family 2

Gene Aliases

HGNC Name

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

HGNC Alias Symbols

MPDS; CDGIE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003859.3
p.H124R
c.371A>G
Surrounding Variants
1 paper
NM_003859.3
p.L121F
c.361C>T
1 paper
NM_003859.3
p.L121fs
c.361_362fs
1 paper
NM_003859.3
p.D120N
c.358G>A
3 papers
NM_003859.3
p.G111_I115delFs
c.331_343del13
2 papers
NM_003859.3
p.G111fs
c.331_332fs
1 paper
NM_003859.3
p.G111fs
c.331_332fs
1 paper
NM_003859.3
p.H108insFs
c.323_324insT
1 paper
NM_003859.3
p.G105R
c.313G>C
1 paper
NM_003859.3
p.G105R
c.313G>A
6 papers
NM_003859.3
p.H124_P125Splc
c.373-5T>A
1 paper
NM_003859.3
p.H124_P125Splc
c.373-1G>C
2 papers
NM_003859.3
p.I132T
c.395T>C
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