Varaico: Literature-Extracted Genetic Variants

P4HA3

34 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 33–161UCSCProlyl 4-Hydroxylase alpha-subunit, N-terminal region

TPR_P4Haa 181–276UCSCProlyl 4-hydroxylase peptide-substrate-binding domain

2OG-FeII_Oxy_3aa 426–528UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

prolyl 4-hydroxylase subunit alpha 3

HGNC Alias Symbol

C-P4Halpha(III)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 36 variants

3 papers

NM_182904.5

p.I167V

c.499A>G

2 papers

NM_182904.5

p.R142W

c.424C>T

2 papers

NM_182904.5

p.D299G

c.896A>G

2 papers

NM_182904.5

p.S378L

c.1133C>T

2 papers

NM_182904.5

p.D400N

c.1198G>A

1 paper

NM_182904.5

p.G2D

c.5G>A

1 paper

NM_182904.5

p.G2insFs

c.6dupT

1 paper

NM_182904.5

p.G2delFs

c.6delA

1 paper

NM_182904.5

p.A9T

c.25G>A

1 paper

NM_182904.5

p.A42S

c.124G>T

1 paper

NM_182904.5

p.L47V

c.139C>G

1 paper

NM_182904.5

p.P86S

c.256C>T