Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.Y46*

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.Y46*
c.138C>G
Surrounding Variants
1 paper
NM_022356.4
p.Y46*
c.138C>A
1 paper
NM_022356.4
p.A47S
c.139G>T
1 paper
NM_022356.4
p.A45V
c.134C>T
3 papers
NM_022356.4
p.P35_A40delFs
c.105_120del16
1 paper
NM_022356.4
p.E41_P52delFs
c.122_156del35
1 paper
NM_022356.4
p.A40V
c.119C>T
1 paper
NM_022356.4
p.D36_A40del0
c.107_118del12
1 paper
NM_022356.4
p.L38V
c.112C>G
1 paper
NM_022356.4
p.L37P
c.110T>C
3 papers
NM_022356.4
p.D36fs
c.106_107fs
1 paper
NM_022356.4
p.M32_V33Fs
c.95_99delinsAFs
1 paper
NM_022356.4
p.M32fs
c.94_95fs
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