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.P639R

c.1916C>G

Surrounding Variants

2 papers

NM_015107.3

p.R653*

c.1957C>T

1 paper

NM_015107.3

p.E656fs

c.1966_1967fs

1 paper

NM_015107.3

p.R655_E656insFs

c.1965_1966dupTG

1 paper

NM_015107.3

p.K627fs

c.1879_1880fs

1 paper

NM_015107.3

p.K627delFs

c.1880delT

1 paper

NM_015107.3

p.D609D

c.1827C>T

1 paper

NM_015107.3

p.T578R

c.1733C>G

1 paper

NM_015107.3

p.T578A

c.1732A>G

3 papers

NM_015107.3

p.S577Splc

c.1731-2A>G

2 papers

NM_015107.3

p.E666fs

c.1996_1997fs

2 papers

NM_015107.3

p.E666delFs

c.1996delC

1 paper

NM_015107.3

p.Y668S

c.2003A>C