Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.R681*

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
14 papers
NM_022356.4
p.R681*
c.2041C>T
Surrounding Variants
1 paper
NM_022356.4
p.R685W
c.2053C>T
1 paper
NM_022356.4
p.E684_R685delFs
c.2051_2054del4
4 papers
NM_022356.4
p.W675L
c.2024G>T
1 paper
NM_022356.4
p.L674V
c.2020C>G
1 paper
NM_022356.4
p.A673T
c.2017G>A
1 paper
NM_022356.4
p.I672insFs
c.2014_2015insA
1 paper
NM_022356.4
p.I672fs
c.2014_2015fs
2 papers
NM_022356.4
p.R685_D686Splc
c.2055+17C>T
8 papers
NM_022356.4
p.R685_D686Splc
c.2055+18G>A
1 paper
NM_022356.4
p.Q668*
c.2002C>T
1 paper
NM_022356.4
p.G667R
c.1999G>C
1 paper
NM_022356.4
p.G667R
c.1999G>A
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