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.S426*

c.1277C>G

Surrounding Variants

1 paper

NM_018192.4

p.S426*

c.1277C>A

1 paper

NM_018192.4

p.K430_L431insFs

c.1290_1291insA

1 paper

NM_018192.4

p.P433S

c.1297C>T

1 paper

NM_018192.4

p.G419V

c.1256G>T

1 paper

NM_018192.4

p.P412S

c.1234C>T

1 paper

NM_018192.4

p.R410Q

c.1229G>A

1 paper

NM_018192.4

p.R410Q

c.1229G>A

1 paper

NM_018192.4

p.E408E

c.1224G>A

3 papers

NM_018192.4

p.R405*

c.1213C>T

1 paper

NM_018192.4

p.G403G

c.1209A>G

1 paper

NM_018192.4

p.Y402S

c.1205A>C

1 paper

NM_018192.4

p.S379C

c.1136C>G