Varaico: Literature-Extracted Genetic Variants

Gene:DPM1
Variant:p.T260I

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.T260I
c.779C>T
Surrounding Variants
1 paper
NM_003859.3
p.T255A
c.763A>G
1 paper
NM_003859.3
p.L254L
c.760T>C
1 paper
NM_003859.3
p.L254M
c.760T>A
12 papers
NM_003859.3
p.S248P
c.742T>C
2 papers
NM_003859.3
p.S239_L241del3
c.715_722del9
1 paper
NM_003859.3
p.R234H
c.701G>A
2 papers
NM_003859.3
p.R234C
c.700C>T
1 paper
NM_003859.3
p.I229V
c.685A>G
1 paper
NM_003859.3
p.P228P
c.684A>G
1 paper
NM_003859.3
p.E226_V227Splc
c.679-7A>T
1 paper
NM_003859.3
p.Q210fs
c.628_629fs
9 papers
NM_003859.3
p.Q210delFs
c.628delG
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