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.Q96insFs

c.286dupC

Surrounding Variants

4 papers

NM_177939.3

p.Q96fs

c.286_287fs

1 paper

NM_177939.3

p.Q96P

c.287A>C

1 paper

NM_177939.3

p.Q100insFs

c.300dupG

1 paper

NM_177939.3

p.G103R

c.307G>A

1 paper

NM_177939.3

p.G103R

c.307G>C

1 paper

NM_177939.3

p.G103fs

c.307_308fs

1 paper

NM_177939.3

p.L78P

c.233T>C

1 paper

NM_177939.3

p.R113delFs

c.337delC

2 papers

NM_177939.3

p.N74S

c.221A>G

1 paper

NM_177939.3

p.E115*

c.343G>T

1 paper

NM_177939.3

p.G73D

c.218G>A

1 paper

NM_177939.3

p.G116D

c.347G>A