Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.M32fs

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.M32fs
c.94_95fs
Surrounding Variants
2 papers
NM_022356.4
p.V24_G31del8
c.70_92del24
1 paper
NM_022356.4
p.M32_V33Fs
c.95_99delinsAFs
3 papers
NM_022356.4
p.D36fs
c.106_107fs
1 paper
NM_022356.4
p.E27D
c.81G>T
1 paper
NM_022356.4
p.E27D
c.81G>C
1 paper
NM_022356.4
p.E27*
c.79G>T
1 paper
NM_022356.4
p.S26insFs
c.77dupC
1 paper
NM_022356.4
p.E27K
c.79G>A
1 paper
NM_022356.4
p.E27fs
c.79_80fs
1 paper
NM_022356.4
p.L37P
c.110T>C
1 paper
NM_022356.4
p.L38V
c.112C>G
1 paper
NM_022356.4
p.A40V
c.119C>T
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