Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.L62L

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.L62L
c.184C>T
Surrounding Variants
1 paper
NM_022356.4
p.R65Q
c.194G>A
1 paper
NM_022356.4
p.E41_P52delFs
c.122_156del35
1 paper
NM_022356.4
p.L73L
c.219G>C
1 paper
NM_022356.4
p.A47S
c.139G>T
1 paper
NM_022356.4
p.Y46*
c.138C>G
1 paper
NM_022356.4
p.Y46*
c.138C>A
2 papers
NM_022356.4
p.Q78fs
c.232_233fs
7 papers
NM_022356.4
p.Q78delFs
c.232delG
1 paper
NM_022356.4
p.A45V
c.134C>T
1 paper
NM_022356.4
p.A81G
c.242C>G
3 papers
NM_022356.4
p.P35_A40delFs
c.105_120del16
1 paper
NM_022356.4
p.A40V
c.119C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."