Varaico: Literature-Extracted Genetic Variants

Gene:P3H2

P3H2

121 papers

RefSeq Summary

This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking b...

Pfam Domains

TPR_leprecanaa 43–353UCSCLeprecan family TPR-like repeat region
TPR_leprecanaa 43–353UCSCLeprecan family TPR-like repeat region
2OG-FeII_Oxy_3aa 573–670UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

prolyl 3-hydroxylase 2

HGNC Previous Symbol

LEPREL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 135 variants
10 papers
NM_018192.4
p.G508V
c.1523G>T
6 papers
NM_018192.4
p.P98delFs
c.292delG
6 papers
NM_018192.4
p.G100fs
c.298_299fs
4 papers
NM_018192.4
p.Q185H
c.555G>T
4 papers
NM_018192.4
p.Q185H
c.555G>C
3 papers
NM_018192.4
p.L10P
c.29T>C
3 papers
NM_018192.4
p.E227*
c.679G>T
3 papers
NM_018192.4
p.R405*
c.1213C>T
3 papers
NM_018192.4
p.L515_K516delFs
c.1543_1546del4
3 papers
NM_018192.4
p.P636S
c.1906C>T
2 papers
NM_018192.4
p.E234K
c.700G>A
2 papers
NM_018192.4
p.R256_Y262delFs
c.767_786del20
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."