Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.S131*

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
5 papers
NM_022356.4
p.S131*
c.392C>A
Surrounding Variants
1 paper
NM_022356.4
p.A129T
c.385G>A
1 paper
NM_022356.4
p.E134fs
c.400_401fs
3 papers
NM_022356.4
p.E134delFs
c.401_402delTT
1 paper
NM_022356.4
p.P126S
c.376C>T
1 paper
NM_022356.4
p.E139*
c.415G>T
1 paper
NM_022356.4
p.R105_L120del16
c.313_359del48
1 paper
NM_022356.4
p.R141C
c.421C>T
1 paper
NM_022356.4
p.R115_R121ins2
c.345_362dup18
1 paper
NM_022356.4
p.R141insFs
c.421dupC
1 paper
NM_022356.4
p.L120L
c.358C>T
1 paper
NM_022356.4
p.C119*
c.357C>A
2 papers
NM_022356.4
p.R143L
c.428G>T
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