Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.A345insFs

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.A345insFs
c.1034dupC
Surrounding Variants
2 papers
NM_022356.4
p.Y344*
c.1032T>G
1 paper
NM_022356.4
p.Y344*
c.1032T>A
1 paper
NM_022356.4
p.M347V
c.1039A>G
2 papers
NM_022356.4
p.A342delFs
c.1026delG
1 paper
NM_022356.4
p.Y343fs
c.1027_1028fs
1 paper
NM_022356.4
p.A342A
c.1026C>T
8 papers
NM_022356.4
p.G349R
c.1045G>C
8 papers
NM_022356.4
p.G349R
c.1045G>A
2 papers
NM_022356.4
p.E351*
c.1051G>T
1 paper
NM_022356.4
p.T353A
c.1057A>G
1 paper
NM_022356.4
p.I356S
c.1067T>G
2 papers
NM_022356.4
p.I356N
c.1067T>A
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