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.L512L

c.1534C>T

Surrounding Variants

1 paper

NM_018192.4

p.V511A

c.1532T>C

2 papers

NM_018192.4

p.L515fs

c.1543_1544fs

10 papers

NM_018192.4

p.G508V

c.1523G>T

3 papers

NM_018192.4

p.L515_K516delFs

c.1543_1546del4

1 paper

NM_018192.4

p.S484N

c.1451G>A

1 paper

NM_018192.4

p.E473insFs

c.1417dupG

1 paper

NM_018192.4

p.E473fs

c.1417_1418fs

2 papers

NM_018192.4

p.R464Q

c.1391G>A

1 paper

NM_018192.4

p.Q463*

c.1387C>T

2 papers

NM_018192.4

p.L446F

c.1336C>T

1 paper

NM_018192.4

p.L446V

c.1336C>G

1 paper

NM_018192.4

p.G443fs

c.1327_1328fs