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.H247R

c.740A>G

Surrounding Variants

1 paper

NM_015107.3

p.F246_H247insFs

c.738_739insT

1 paper

NM_015107.3

p.H247fs

c.739_740fs

1 paper

NM_015107.3

p.I248S

c.743T>G

1 paper

NM_015107.3

p.D249G

c.746A>G

1 paper

NM_015107.3

p.T244I

c.731C>T

1 paper

NM_015107.3

p.T244_G251del0

c.730_753del24

1 paper

NM_015107.3

p.S254P

c.760T>C

1 paper

NM_015107.3

p.M237I

c.711G>T

1 paper

NM_015107.3

p.M237I

c.711G>C

1 paper

NM_015107.3

p.M237I

c.711G>A

1 paper

NM_001184896.1

p.V291_Y293del3

c.871_878del9

1 paper

NM_015107.3

p.Q232delFs

c.694delG