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.L278F

c.832C>T

Surrounding Variants

17 papers

NM_015107.3

p.F279S

c.836T>C

1 paper

NM_015107.3

p.S283R

c.847A>C

1 paper

NM_015107.3

p.S283R

c.849C>G

1 paper

NM_015107.3

p.S283R

c.849C>A

1 paper

NM_015107.3

p.P271delFs

c.811_812delGG

1 paper

NM_015107.3

p.R270C

c.808C>T

1 paper

NM_015107.3

p.Q288*

c.862C>T

1 paper

NM_015107.3

p.K264R

c.791A>G

1 paper

NM_015107.3

p.K261_G262Splc

c.784-2A>G

1 paper

NM_015107.3

p.Y301C

c.902A>G

1 paper

NM_015107.3

p.D298_Y301delFs

c.894_903del10

1 paper

NM_015107.3

p.L311F

c.931C>T