Varaico: Literature-Extracted Genetic Variants

Gene:DPM1
Variant:p.F51S

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.F51S
c.152T>C
Surrounding Variants
1 paper
NM_003859.3
p.V48V
c.144G>A
1 paper
NM_003859.3
p.L47L
c.139C>T
1 paper
NM_003859.3
p.V44G
c.131T>G
1 paper
NM_003859.3
p.V44A
c.131T>C
1 paper
NM_003859.3
p.V44M
c.130G>A
1 paper
NM_003859.3
p.S54Splc
c.161+68C>T
1 paper
NM_003859.3
p.P22_R23insA
c.64_68ins3
1 paper
NM_003859.3
p.V19V
c.57G>A
1 paper
NM_003859.3
p.E16*
c.46G>T
7 papers
NM_003859.3
p.R14W
c.40C>T
1 paper
NM_003859.3
p.R11delFs
c.32delC
1 paper
NM_003859.3
p.P10H
c.29C>A
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