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.D613N

c.1837G>A

Surrounding Variants

1 paper

NM_018192.4

p.G617R

c.1849G>C

1 paper

NM_018192.4

p.S606T

c.1817G>C

1 paper

NM_018192.4

p.F622S

c.1865T>C

1 paper

NM_018192.4

p.D626delFs

c.1876_1877delTC

1 paper

NM_018192.4

p.T631_A632Splc

c.1893+1G>A

1 paper

NM_018192.4

p.S606T

c.1817G>C

1 paper

NM_018192.4

p.R603*

c.1807C>T

1 paper

NM_018192.4

p.L586F

c.1758G>T

1 paper

NM_018192.4

p.L586F

c.1758G>C

1 paper

NM_018192.4

p.L585L

c.1755G>A

1 paper

NM_018192.4

p.S576fs

c.1726_1727fs

1 paper

NM_018192.4

p.L565P

c.1694T>C