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

3 papers

NM_018192.4

p.L10P

c.29T>C

Surrounding Variants

1 paper

NM_018192.4

p.P9L

c.26C>T

1 paper

NM_018192.4

p.L13P

c.38T>C

1 paper

NM_018192.4

p.L17ins6

c.50_51ins18

1 paper

NM_018192.4

p.R2W

c.4C>T

1 paper

NM_018192.4

p.E37*

c.109G>T

1 paper

NM_018192.4

p.L36_P38ins1

c.107_112dup6

1 paper

NM_018192.4

p.F44L

c.130T>C

1 paper

NM_018192.4

p.F44Y

c.131T>A

1 paper

NM_018192.4

p.F44L

c.132C>G

1 paper

NM_018192.4

p.F44L

c.132C>A

1 paper

NM_018192.4

p.R62*

c.184C>T

1 paper

NM_018192.4

p.V64G

c.191T>G