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

Selected Variant

1 paper

NM_177938.2

p.R358_Q359insFs

c.1074_1075insT

Surrounding Variants

5 papers

NM_177939.3

p.R358H

c.1073G>A

1 paper

NM_177939.3

p.R318*

c.952C>T

1 paper

NM_177939.3

p.V317F

c.949G>T

3 papers

NM_177939.3

p.V317fs

c.949_950fs

6 papers

NM_177939.3

p.V317delFs

c.949delG

1 paper

NM_177939.3

p.V316I

c.946G>A

1 paper

NM_177939.3

p.V316F

c.946G>T

1 paper

NM_177939.3

p.P313L

c.938C>T

1 paper

NM_177939.3

p.E312K

c.934G>A

2 papers

NM_177939.3

p.S311R

c.933C>A

2 papers

NM_177939.3

p.S311R

c.933C>G

2 papers

NM_177939.3

p.S311R

c.931A>C