Varaico: Literature-Extracted Genetic Variants

P4HA2

77 papers

RefSeq Summary

This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several differen...

Pfam Domains

P4Ha_Naa 26–157UCSCProlyl 4-Hydroxylase alpha-subunit, N-terminal region

2OG-FeII_Oxy_3aa 416–519UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

prolyl 4-hydroxylase subunit alpha 2

HGNC Alias Symbols

C-P4Halpha(II); lncRNA-PE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001017974.2

p.S175L

c.524C>T

Surrounding Variants

1 paper

NM_001017974.2

p.A176T

c.526G>A

1 paper

NM_001017974.2

p.R174H

c.521G>A

1 paper

NM_001017974.2

p.A176A

c.528C>A

1 paper

NM_001017974.2

p.M172I

c.516G>T

1 paper

NM_001017974.2

p.M172I

c.516G>C

1 paper

NM_001017974.2

p.M172I

c.516G>A

1 paper

NM_001017974.2

p.G171G

c.513G>A

1 paper

NM_001017974.2

p.Y182C

c.545A>G

1 paper

NM_001017974.2

p.Y183_H184del1

c.548_550delGAT

2 papers

NM_001017974.2

p.T185M

c.554C>T

1 paper

NM_001017974.2

p.Y160H

c.478T>C

1 paper

NM_001017974.2

p.T158I

c.473C>T