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

2 papers

NM_015107.3

p.Q343*

c.1027C>T

Surrounding Variants

2 papers

NM_015107.3

p.L344F

c.1030C>T

1 paper

NM_015107.3

p.G331_G332insFs

c.993_994dupAG

1 paper

NM_015107.3

p.G332fs

c.994_995fs

1 paper

NM_015107.3

p.I318N

c.953T>A

1 paper

NM_015107.3

p.V371delFs

c.1111_1112delAC

2 papers

NM_015107.3

p.G372G

c.1116A>C

1 paper

NM_015107.3

p.R380R

c.1140C>T

1 paper

NM_015107.3

p.G381Splc

c.1141+5G>C

1 paper

NM_015107.3

p.G381R

c.1141G>C

1 paper

NM_015107.3

p.R383delFs

c.1148delC

1 paper

NM_015107.3

p.E384K

c.1150G>A

1 paper

NM_015107.3

p.D432insFs

c.1296dupT