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.A226V

c.677C>T

Surrounding Variants

1 paper

NM_001017974.2

p.H224_R225del0

c.670_675del6

1 paper

NM_001017974.2

p.L227L

c.679C>T

1 paper

NM_001017974.2

p.R231C

c.691C>T

1 paper

NM_001017974.2

p.R231fs

c.691_692fs

1 paper

NM_001017974.2

p.R231delFs

c.692delC

1 paper

NM_001017974.2

p.L233R

c.698T>G

2 papers

NM_001017974.2

p.F218L

c.654C>G

1 paper

NM_001017974.2

p.L234_S235insAA

c.700_704ins6

2 papers

NM_001017974.2

p.F218L

c.654C>A

2 papers

NM_001017974.2

p.F218L

c.652T>C

1 paper

NM_001017974.2

p.V209G

c.626T>G

1 paper

NM_001017974.2

p.T205A

c.613A>G