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.E246K

c.736G>A

Surrounding Variants

1 paper

NM_018192.4

p.T249I

c.746C>T

1 paper

NM_018192.4

p.V242I

c.724G>A

1 paper

NM_018192.4

p.R238S

c.714A>T

1 paper

NM_018192.4

p.R238S

c.714A>C

2 papers

NM_018192.4

p.E234K

c.700G>A

1 paper

NM_018192.4

p.E259insFs

c.776_777insG

1 paper

NM_018192.4

p.Y260F

c.779A>T

1 paper

NM_018192.4

p.I230T

c.689T>C

1 paper

NM_018192.4

p.Y262N

c.784T>A

2 papers

NM_018192.4

p.R256_Y262delFs

c.767_786del20

3 papers

NM_018192.4

p.E227*

c.679G>T

1 paper

NM_018192.4

p.Y265*

c.795T>G