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

1–12 of 107 variants

9 papers

NM_001017974.2

p.E291K

c.871G>A

7 papers

NM_001017974.2

p.Q140R

c.419A>G

4 papers

NM_001017974.2

p.I150V

c.448A>G

4 papers

NM_001017974.2

p.K443*

c.1327A>T

4 papers

NM_001017974.2

p.K443E

c.1327A>G

3 papers

NM_001017974.2

p.A461G

c.1382C>G

2 papers

NM_001017974.2

p.R120Q

c.359G>A

2 papers

NM_001017974.2

p.G153E

c.458G>A

2 papers

NM_001017974.2

p.E154G

c.461A>G

2 papers

NM_001017974.2

p.T185M

c.554C>T

2 papers

NM_001017974.2

p.F218L

c.652T>C

2 papers

NM_001017974.2

p.F218L

c.654C>G