Varaico: Literature-Extracted Genetic Variants

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

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

Selected Variant

1 paper

NM_018192.4

p.R529H

c.1586G>A

Surrounding Variants

1 paper

NM_018192.4

p.A528T

c.1582G>A

1 paper

NM_018192.4

p.F531I

c.1591T>A

1 paper

NM_018192.4

p.K526Q

c.1576A>C

1 paper

NM_018192.4

p.G521V

c.1562G>T

2 papers

NM_018192.4

p.R539*

c.1615C>T

1 paper

NM_018192.4

p.E543*

c.1627G>T

2 papers

NM_018192.4

p.H558Y

c.1672C>T

1 paper

NM_018192.4

p.R562*

c.1684C>T

1 paper

NM_018192.4

p.L565L

c.1693C>T

1 paper

NM_018192.4

p.L565P

c.1694T>C

3 papers

NM_018192.4

p.L515_K516delFs

c.1543_1546del4

2 papers

NM_018192.4

p.L515fs

c.1543_1544fs