Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.F154L

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.F154L
c.460T>C
Surrounding Variants
1 paper
NM_022356.4
p.F154L
c.462C>G
1 paper
NM_022356.4
p.F154L
c.462C>A
2 papers
NM_022356.4
p.Y153D
c.457T>G
1 paper
NM_022356.4
p.K155_I156Splc
c.465+1G>C
2 papers
NM_022356.4
p.L149R
c.446T>G
1 paper
NM_022356.4
p.N147_Y148insFs
c.441_442insC
2 papers
NM_022356.4
p.N147del1
c.439_440delGTT
2 papers
NM_022356.4
p.R143L
c.428G>T
1 paper
NM_022356.4
p.R141insFs
c.421dupC
1 paper
NM_022356.4
p.R141C
c.421C>T
1 paper
NM_022356.4
p.E139*
c.415G>T
3 papers
NM_022356.4
p.E134delFs
c.401_402delTT
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