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

1–12 of 36 variants

2 papers

NM_001017962.3

p.P13T

c.37C>A

2 papers

NM_001017962.3

p.R520C

c.1558C>T

1 paper

NM_001017962.3

p.E61Q

c.181G>C

1 paper

NM_001017962.3

p.R65Q

c.194G>A

1 paper

NM_001017962.3

p.R90C

c.268C>T

1 paper

NM_001017962.3

p.N113S

c.338A>G

1 paper

NM_001017962.3

p.R136H

c.407G>A

1 paper

NM_001017962.3

p.K150N

c.450G>T

1 paper

NM_001017962.3

p.K150N

c.450G>C

1 paper

NM_001017962.3

p.F161S

c.482T>C

1 paper

NM_001017962.3

p.H182L

c.545A>T

1 paper

NM_001017962.3

p.S206fs

c.616_617fs