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.H182L

c.545A>T

Surrounding Variants

1 paper

NM_001017962.3

p.F161S

c.482T>C

1 paper

NM_001017962.3

p.S206fs

c.616_617fs

1 paper

NM_001017962.3

p.S206delFs

c.617_618delAG

1 paper

NM_001017962.3

p.D222N

c.664G>A

1 paper

NM_001017962.3

p.K260E

c.778A>G

1 paper

NM_001017962.3

p.R294C

c.880C>T

1 paper

NM_001017962.3

p.R304K

c.911G>A

1 paper

NM_001017962.3

p.C310R

c.928T>C

1 paper

NM_001017962.3

p.D333N

c.997G>A

1 paper

NM_001017962.3

p.R339C

c.1015C>T

1 paper

NM_001017962.3

p.F340L

c.1018T>C

1 paper

NM_001017962.3

p.F340L

c.1020C>G