Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.E719fs

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
2 papers
NM_022356.4
p.E719fs
c.2155_2156fs
Surrounding Variants
1 paper
NM_022356.4
p.P718_E719insFs
c.2154_2155insCC
2 papers
NM_022356.4
p.G716delFs
c.2148delG
1 paper
NM_022356.4
p.P718fs
c.2152_2153fs
1 paper
NM_022356.4
p.E719fs
c.2155_2156fs
1 paper
NM_022356.4
p.P718A
c.2152C>G
1 paper
NM_022356.4
p.G716_P717Fs
c.2148_2149delinsAFs
1 paper
NM_022356.4
p.G716fs
c.2146_2147fs
1 paper
NM_022356.4
p.G716A
c.2147G>C
4 papers
NM_022356.4
p.Q722*
c.2164C>T
1 paper
NM_022356.4
p.Q722_E723insC
c.2164_2168ins3
2 papers
NM_022356.4
p.E723K
c.2167G>A
1 paper
NM_022356.4
p.Q715*
c.2143C>T
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