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.E169E

c.507A>G

Surrounding Variants

1 paper

NM_018192.4

p.A167_V168ins0

c.499_504dup6

1 paper

NM_018192.4

p.E165K

c.493G>A

1 paper

NM_018192.4

p.L164P

c.491T>C

1 paper

NM_018192.4

p.E180D

c.540G>T

1 paper

NM_018192.4

p.E180D

c.540G>C

1 paper

NM_001134418.2

p.M1_E2insFs

c.3_4insT

4 papers

NM_018192.4

p.Q185H

c.555G>T

4 papers

NM_018192.4

p.Q185H

c.555G>C

1 paper

NM_018192.4

p.A199_V203delFs

c.595_607del13

1 paper

NM_018192.4

p.D204E

c.612C>G

1 paper

NM_018192.4

p.D204E

c.612C>A

1 paper

NM_018192.4

p.M211_E212Splc

c.633+1G>A