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

6 papers

NM_018192.4

p.G100fs

c.298_299fs

Surrounding Variants

6 papers

NM_018192.4

p.P98delFs

c.292delG

1 paper

NM_018192.4

p.P98L

c.293C>T

1 paper

NM_018192.4

p.P96S

c.286C>T

1 paper

NM_018192.4

p.P93T

c.277C>A

1 paper

NM_018192.4

p.C88insFs

c.264dupC

1 paper

NM_018192.4

p.A89fs

c.265_266fs

1 paper

NM_018192.4

p.C88C

c.264C>T

1 paper

NM_018192.4

p.H87Y

c.259C>T

1 paper

NM_018192.4

p.R116W

c.346C>T

1 paper

NM_018192.4

p.C119Y

c.356G>A

1 paper

NM_018192.4

p.E79Q

c.235G>C

1 paper

NM_018192.4

p.E124K

c.370G>A