Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.D106E

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.D106E
c.318C>G
Surrounding Variants
1 paper
NM_022356.4
p.D106E
c.318C>A
1 paper
NM_022356.4
p.D106A
c.317A>C
1 paper
NM_022356.4
p.R105_F109del0
c.314_325del12
1 paper
NM_022356.4
p.L104L
c.310C>T
1 paper
NM_022356.4
p.G111R
c.331G>A
1 paper
NM_022356.4
p.A96_A101del0
c.287_301del15
1 paper
NM_022356.4
p.P93_A98insFs
c.278_293dup16
1 paper
NM_022356.4
p.R115C
c.343C>T
2 papers
NM_022356.4
p.R115H
c.344G>A
1 paper
NM_022356.4
p.A117fs
c.349_350fs
2 papers
NM_022356.4
p.A117P
c.349G>C
2 papers
NM_022356.4
p.L107_A118del0
c.321_353del33
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