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

4 papers

NM_177939.3

p.H161P

c.482A>C

Surrounding Variants

1 paper

NM_177939.3

p.A163V

c.488C>T

1 paper

NM_177939.3

p.E155K

c.463G>A

1 paper

NM_177939.3

p.E178G

c.533A>G

1 paper

NM_177939.3

p.Y179F

c.536A>T

2 papers

NM_177939.3

p.Q190_L193delFs

c.569_579del11

1 paper

NM_177939.3

p.Q190fs

c.568_569fs

1 paper

NM_177939.3

p.Q190fs

c.568_569fs

1 paper

NM_177939.3

p.L191delFs

c.571delC

1 paper

NM_177939.3

p.L191fs

c.571_572fs

1 paper

NM_177939.3

p.H204fs

c.610_611fs

1 paper

NM_177939.3

p.H204insFs

c.611_612ins4

1 paper

NM_177939.3

p.L205P

c.614T>C