Varaico: Literature-Extracted Genetic Variants

P4HA1

42 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 24–155UCSCProlyl 4-Hydroxylase alpha-subunit, N-terminal region

TPR_P4Haa 164–254UCSCProlyl 4-hydroxylase peptide-substrate-binding domain

2OG-FeII_Oxy_3aa 415–518UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

prolyl 4-hydroxylase subunit alpha 1

HGNC Alias Symbol

C-P4Halpha(I)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001017962.3

p.Y456F

c.1367A>T

Surrounding Variants

1 paper

NM_001017962.3

p.F455V

c.1363T>G

1 paper

NM_001017962.3

p.G445R

c.1333G>C

1 paper

NM_001017962.3

p.G445R

c.1333G>A

1 paper

NM_001017962.3

p.F441_K442insFs

c.1323_1324insAG

1 paper

NM_001017962.3

p.R434Q

c.1301G>A

1 paper

NM_001017962.3

p.V507F

c.1519G>T

2 papers

NM_001017962.3

p.R520C

c.1558C>T

1 paper

NM_001017962.3

p.R525*

c.1573C>T

1 paper

NM_001017962.3

p.T529M

c.1586C>T