Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.A231V

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.A231V
c.692C>T
Surrounding Variants
1 paper
NM_022356.4
p.H227Q
c.681C>A
1 paper
NM_022356.4
p.H227L
c.680A>T
2 papers
NM_022356.4
p.P226L
c.677C>T
1 paper
NM_022356.4
p.Y239*
c.717T>G
1 paper
NM_022356.4
p.Y239*
c.717T>A
1 paper
NM_022356.4
p.Q222*
c.664C>T
1 paper
NM_022356.4
p.E241insFs
c.722_723insC
1 paper
NM_022356.4
p.Q220*
c.658C>T
3 papers
NM_022356.4
p.E218*
c.652G>T
1 paper
NM_022356.4
p.L215Fs
c.645delinsGGAFs
1 paper
NM_022356.4
p.L215Fs
c.645delinsGGAGAAFs
1 paper
NM_022356.4
p.R214*
c.640C>T
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