Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.V767I

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_001243246.2
p.V767I
c.2299G>A
Surrounding Variants
1 paper
NM_022356.4
p.R685_D686Splc
c.2056-157C>T
1 paper
NM_001243246.2
p.H722Y
c.2164C>T
2 papers
NM_022356.4
p.R685_D686Splc
c.2055+86A>G
NM_001243246.2
p.K714R
c.2141A>G
1 paper
NM_001243246.2
p.L711insFs
c.2131dupC
1 paper
NM_001243246.2
p.L711fs
c.2131_2132fs
1 paper
NM_022356.4
p.R685_D686Splc
c.2055+74T>A
3 papers
NM_001146289.2
p.G692Splc
c.2075-1G>A
NM_022356.4
p.R685_D686Splc
c.2056-1G>A
1 paper
NM_022356.4
p.R687T
c.2060G>C
1 paper
NM_022356.4
p.R685_D686Splc
c.2055+58C>T
1 paper
NM_022356.4
p.L693L
c.2079G>C
1 paper
NM_022356.4
p.S699N
c.2096G>A
1 paper
NM_022356.4
p.P700P
c.2100A>G
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