Varaico: Literature-Extracted Genetic Variants

P4HTM

60 papers

RefSeq Summary

The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under n...

Pfam Domains

EF-hand_7aa 191–252UCSCEF-hand domain pair

2OG-FeII_Oxy_3aa 314–459UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

prolyl 4-hydroxylase, transmembrane

HGNC Alias Symbols

P4H-TM; PHD4; PH4; HIFPH4; FLJ20262; EGLN4; PH-4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 133 variants

6 papers

NM_177939.3

p.V317delFs

c.949delG

5 papers

NM_177939.3

p.R358H

c.1073G>A

4 papers

NM_177939.3

p.Q96insFs

c.286dupC

4 papers

NM_177939.3

p.Q96fs

c.286_287fs

4 papers

NM_177939.3

p.H161P

c.482A>C

4 papers

NM_177939.3

p.N274fs

c.820_821fs

3 papers

NM_177939.3

p.W220*

c.659G>A

3 papers

NM_177939.3

p.W220*

c.660G>A

3 papers

NM_177939.3

p.R273insFs

c.819dupG

3 papers

NM_177939.3

p.R296S

c.888G>C

3 papers

NM_177939.3

p.R296S

c.888G>T

3 papers

NM_177939.3

p.R296Splc

c.888-3C>A