Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.K408Splc

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.K408Splc
c.1224-79G>A
Surrounding Variants
7 papers
NM_022356.4
p.K408Splc
c.1224-80G>A
1 paper
NM_022356.4
p.K408Splc
c.1223+49T>G
1 paper
NM_022356.4
p.K408Splc
c.1223+28T>A
1 paper
NM_022356.4
p.K408N
c.1224G>T
1 paper
NM_022356.4
p.K408N
c.1224G>C
1 paper
NM_022356.4
p.S409*
c.1226C>G
1 paper
NM_022356.4
p.S409*
c.1226C>A
1 paper
NM_022356.4
p.E412K
c.1234G>A
2 papers
NM_022356.4
p.K408Splc
c.1223+2T>G
1 paper
NM_022356.4
p.K408_A414delFs
c.1224_1240del17
2 papers
NM_022356.4
p.V415insFs
c.1244dupT
2 papers
NM_022356.4
p.R416fs
c.1246_1247fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."