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

4 papers

NM_001017974.2

p.I150V

c.448A>G

Surrounding Variants

2 papers

NM_001017974.2

p.G153E

c.458G>A

1 paper

NM_001017974.2

p.D146G

c.437A>G

2 papers

NM_001017974.2

p.E154G

c.461A>G

7 papers

NM_001017974.2

p.Q140R

c.419A>G

1 paper

NM_001017974.2

p.A132D

c.395C>A

1 paper

NM_001017974.2

p.D128N

c.382G>A

1 paper

NM_001017974.2

p.F123L

c.369C>G

2 papers

NM_001017974.2

p.R120Q

c.359G>A

1 paper

NM_001017974.2

p.S108P

c.322T>C

1 paper

NM_001017974.2

p.Q106*

c.316C>T

1 paper

NM_001017974.2

p.A99V

c.296C>T

1 paper

NM_001017974.2

p.K88fs

c.262_263fs