Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.L120L

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.L120L
c.358C>T
Surrounding Variants
1 paper
NM_022356.4
p.C119*
c.357C>A
1 paper
NM_022356.4
p.L107_A118del12
c.319_353del36
2 papers
NM_022356.4
p.L107_A118del0
c.321_353del33
1 paper
NM_022356.4
p.L107_A118delFs
c.320_353del34
1 paper
NM_022356.4
p.R115_R121ins2
c.345_362dup18
1 paper
NM_022356.4
p.R105_L120del16
c.313_359del48
1 paper
NM_022356.4
p.A117fs
c.349_350fs
2 papers
NM_022356.4
p.A117P
c.349G>C
2 papers
NM_022356.4
p.R115H
c.344G>A
1 paper
NM_022356.4
p.R115C
c.343C>T
1 paper
NM_022356.4
p.P126S
c.376C>T
1 paper
NM_022356.4
p.A129T
c.385G>A
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