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.R296S

c.888G>C

Surrounding Variants

3 papers

NM_177939.3

p.R296S

c.888G>T

1 paper

NM_177939.3

p.R294C

c.880C>T

1 paper

NM_177939.3

p.R291H

c.872G>A

4 papers

NM_177939.3

p.N274fs

c.820_821fs

3 papers

NM_177939.3

p.R273insFs

c.819dupG

1 paper

NM_177939.3

p.R273W

c.817C>T

1 paper

NM_177939.3

p.Y260*

c.780C>A

1 paper

NM_177939.3

p.Y260*

c.780C>G

1 paper

NM_177939.3

p.Y260delFs

c.780delC

1 paper

NM_177939.3

p.Q247delFs

c.740delA

1 paper

NM_177939.3

p.Q247fs

c.739_740fs

3 papers

NM_177939.3

p.R296Splc

c.888-3C>A