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.P636S

c.1906C>T

Surrounding Variants

1 paper

NM_018192.4

p.R640C

c.1918C>T

2 papers

NM_018192.4

p.R640H

c.1919G>A

1 paper

NM_018192.4

p.G647E

c.1940G>A

1 paper

NM_018192.4

p.G653delFs

c.1957_1958delCC

1 paper

NM_018192.4

p.T658I

c.1973C>T

2 papers

NM_001134418.2

p.K480R

c.1439A>G

NM_018192.4

p.K661R

c.1982A>G

1 paper

NM_018192.4

p.C663Y

c.1988G>A

1 paper

NM_018192.4

p.T670_Y675del6

c.2008_2024del18

1 paper

NM_018192.4

p.L678_E679Splc

c.2034+1G>A

1 paper

NM_018192.4

p.T631_A632Splc

c.1893+1G>A

1 paper

NM_018192.4

p.D626delFs

c.1876_1877delTC

1 paper

NM_018192.4

p.F622S

c.1865T>C