Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.A320T

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.A320T
c.958G>A
Surrounding Variants
1 paper
NM_022356.4
p.N316_Y317insFs
c.946_949dup4
1 paper
NM_022356.4
p.N316insFs
c.948dupT
1 paper
NM_022356.4
p.A324V
c.971C>T
1 paper
NM_022356.4
p.T326delFs
c.976delT
1 paper
NM_022356.4
p.T326T
c.978C>T
1 paper
NM_022356.4
p.Y327C
c.980A>G
1 paper
NM_022356.4
p.L328F
c.982C>T
2 papers
NM_022356.4
p.F330L
c.990C>A
1 paper
NM_022356.4
p.F331F
c.993C>T
1 paper
NM_022356.4
p.D334D
c.1002C>T
1 paper
NM_022356.4
p.E335K
c.1003G>A
1 paper
NM_022356.4
p.A342A
c.1026C>T
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