Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.F83delFs

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.F83delFs
c.248_249delGA
Surrounding Variants
1 paper
NM_022356.4
p.E86fs
c.256_257fs
1 paper
NM_022356.4
p.E86delFs
c.257delT
1 paper
NM_022356.4
p.A81G
c.242C>G
2 papers
NM_022356.4
p.L87L
c.259C>T
1 paper
NM_022356.4
p.P89L
c.266C>T
7 papers
NM_022356.4
p.Q78delFs
c.232delG
2 papers
NM_022356.4
p.Q78fs
c.232_233fs
1 paper
NM_022356.4
p.W91_P93ins1
c.271_279dup9
1 paper
NM_022356.4
p.W91_P93del0
c.271_279del9
1 paper
NM_022356.4
p.L73L
c.219G>C
1 paper
NM_022356.4
p.S94N
c.281G>A
1 paper
NM_022356.4
p.P93_A98insFs
c.278_293dup16
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