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

3 papers

NM_177939.3

p.W220*

c.660G>A

Surrounding Variants

3 papers

NM_177939.3

p.W220*

c.659G>A

1 paper

NM_177939.3

p.M222I

c.666G>A

1 paper

NM_177939.3

p.M222I

c.666G>C

1 paper

NM_177939.3

p.M222I

c.666G>T

1 paper

NM_177939.3

p.R215L

c.644G>T

1 paper

NM_177939.3

p.S226N

c.677G>A

2 papers

NM_177939.3

p.I227V

c.679A>G

1 paper

NM_177939.3

p.Q213*

c.637C>T

1 paper

NM_177939.3

p.A236T

c.706G>A

1 paper

NM_177939.3

p.D239Y

c.715G>T

1 paper

NM_177939.3

p.G242R

c.724G>A

1 paper

NM_177939.3

p.G242R

c.724G>C