Varaico: Literature-Extracted Genetic Variants

Gene:DOLPP1

DOLPP1

22 papers

RefSeq Summary

A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl...

Pfam Domains

PAP2aa 58–187UCSCPAP2 superfamily
PAP2aa 58–187UCSCPAP2 superfamily

Gene Aliases

HGNC Name

dolichyldiphosphatase 1

HGNC Alias Symbol

LSFR2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
2 papers
NM_020438.5
p.S111F
c.332C>T
1 paper
NM_020438.5
p.Y23N
c.67T>A
1 paper
NM_020438.5
p.G26Splc
c.77-82G>T
1 paper
NM_020438.5
p.S29F
c.86C>T
1 paper
NM_020438.5
p.V45I
c.133G>A
1 paper
NM_020438.5
p.T49I
c.146C>T
1 paper
NM_020438.5
p.F53Y
c.158T>A
1 paper
NM_020438.5
p.T59T
c.177G>A
1 paper
NM_020438.5
p.S101P
c.301T>C
1 paper
NM_020438.5
p.N126T
c.377A>C
1 paper
NM_020438.5
p.D132N
c.394G>A
1 paper
NM_020438.5
p.V146M
c.436G>A
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