Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.N491S

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.N491S
c.1472A>G
Surrounding Variants
6 papers
NM_022356.4
p.N491_V492Splc
c.1473+1G>T
3 papers
NM_022356.4
p.N491_V492Splc
c.1473+3A>C
8 papers
NM_022356.4
p.L489P
c.1466T>C
1 paper
NM_022356.4
p.N491_V492Splc
c.1473+5G>T
3 papers
NM_022356.4
p.Q487*
c.1459C>T
1 paper
NM_022356.4
p.C483Y
c.1448G>A
1 paper
NM_022356.4
p.V473A
c.1418T>C
1 paper
NM_022356.4
p.V473M
c.1417G>A
1 paper
NM_022356.4
p.K464delFs
c.1390delT
4 papers
NM_022356.4
p.M461_S463insFs
c.1383_1389dup7
2 papers
NM_022356.4
p.K464fs
c.1390_1391fs
3 papers
NM_022356.4
p.E455_G456Fs
c.1365_1366delinsCFs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."