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.D432insFs

c.1296dupT

Surrounding Variants

1 paper

NM_015107.3

p.Q446R

c.1337A>G

1 paper

NM_015107.3

p.P467L

c.1400C>T

1 paper

NM_015107.3

p.R481W

c.1441A>T

1 paper

NM_015107.3

p.G494A

c.1481G>C

1 paper

NM_015107.3

p.P497A

c.1489C>G

1 paper

NM_015107.3

p.K498R

c.1493A>G

1 paper

NM_015107.3

p.E499fs

c.1495_1496fs

1 paper

NM_015107.3

p.E499A

c.1496A>C

1 paper

NM_015107.3

p.E499delFs

c.1497delT

1 paper

NM_015107.3

p.A504G

c.1511C>G

1 paper

NM_015107.3

p.E505A

c.1514A>C

1 paper

NM_015107.3

p.L514_A517del4

c.1540_1550del12