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.N345H

c.1033A>C

Surrounding Variants

1 paper

NM_018192.4

p.I362V

c.1084A>G

1 paper

NM_018192.4

p.V372L

c.1114G>C

1 paper

NM_018192.4

p.S379C

c.1136C>G

1 paper

NM_018192.4

p.R318*

c.952C>T

1 paper

NM_018192.4

p.A315V

c.944C>T

1 paper

NM_018192.4

p.F304S

c.911T>C

1 paper

NM_018192.4

p.R297C

c.889C>T

1 paper

NM_018192.4

p.E286*

c.856G>T

1 paper

NM_018192.4

p.H285R

c.854A>G

1 paper

NM_018192.4

p.H285Y

c.853C>T

1 paper

NM_018192.4

p.D275Splc

c.824-10T>A

1 paper

NM_018192.4

p.Y402S

c.1205A>C