Varaico: Literature-Extracted Genetic Variants

PHF8

125 papers

RefSeq Summary

The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and...

Pfam Domains

PHDaa 44–89UCSCPHD-finger

JmjCaa 270–370UCSCJmjC domain, hydroxylase

JHDaa 374–477UCSCJumonji helical domain

Gene Aliases

HGNC Name

PHD finger protein 8

HGNC Alias Symbols

ZNF422; KIAA1111; JHDM1F; KDM7B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015107.3

p.Q110E

c.328C>G

Surrounding Variants

1 paper

NM_015107.3

p.S120S

c.360C>T

1 paper

NM_015107.3

p.S99T

c.295T>A

1 paper

NM_015107.3

p.S122C

c.364A>T

1 paper

NM_015107.3

p.I125delFs

c.373delT

1 paper

NM_015107.3

p.L126fs

c.376_377fs

1 paper

NM_015107.3

p.L126delFs

c.377delA

1 paper

NM_015107.3

p.S139S

c.417G>A

1 paper

NM_015107.3

p.V147V

c.441T>G

1 paper

NM_015107.3

p.G152Splc

c.454+5G>A

1 paper

NM_015107.3

p.I157I

c.471T>A

1 paper

NM_015107.3

p.L172_G173delFs

c.514_517del4

6 papers

NM_015107.3

p.K177*

c.529A>T