Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.L12R

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
2 papers
NM_022356.4
p.L12R
c.35T>G
Surrounding Variants
2 papers
NM_022356.4
p.L8_T11delFs
c.24_31del8
1 paper
NM_022356.4
p.A17S
c.49G>T
1 paper
NM_022356.4
p.A5A
c.15G>A
2 papers
NM_022356.4
p.A5V
c.14C>T
1 paper
NM_022356.4
p.R4delFs
c.12delG
1 paper
NM_022356.4
p.R4fs
c.10_11fs
1 paper
NM_022356.4
p.V3insFs
c.9dupA
1 paper
NM_022356.4
p.R4fs
c.10_11fs
1 paper
NM_022356.4
p.A2delFs
c.6delC
1 paper
NM_022356.4
p.M1I
c.3G>T
1 paper
NM_022356.4
p.M1I
c.3G>C
2 papers
NM_022356.4
p.M1I
c.3G>A
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