Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.D441G

P3H1

266 papers

RefSeq Summary

This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synt...

Pfam Domains

TPR_leprecanaa 34–348UCSCLeprecan family TPR-like repeat region
2OG-FeII_Oxy_3aa 575–677UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

prolyl 3-hydroxylase 1

HGNC Previous Symbol

LEPRE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022356.4
p.D441G
c.1322A>G
Surrounding Variants
1 paper
NM_022356.4
p.D441_V442insC
c.1321_1325ins3
1 paper
NM_022356.4
p.S439_D441del3
c.1315_1322del9
1 paper
NM_022356.4
p.R447W
c.1339C>T
1 paper
NM_022356.4
p.E434*
c.1300G>T
1 paper
NM_022356.4
p.G449R
c.1345G>C
1 paper
NM_022356.4
p.G449S
c.1345G>A
3 papers
NM_022356.4
p.G449Splc
c.1345+1G>A
1 paper
NM_022356.4
p.V432E
c.1295T>A
1 paper
NM_022356.4
p.E427K
c.1279G>A
1 paper
NM_022356.4
p.K426insFs
c.1276dupA
1 paper
NM_022356.4
p.K426delFs
c.1276delT
1 paper
NM_022356.4
p.S418C
c.1253C>G
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