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.E666delFs

c.1996delC

Surrounding Variants

2 papers

NM_015107.3

p.E666fs

c.1996_1997fs

1 paper

NM_015107.3

p.Y668S

c.2003A>C

1 paper

NM_015107.3

p.D671N

c.2011G>A

1 paper

NM_015107.3

p.M674V

c.2020A>G

2 papers

NM_015107.3

p.L694del1

c.2080_2081delCAG

1 paper

NM_015107.3

p.P704_L709ins2

c.2110_2127dup18

1 paper

NM_015107.3

p.E711K

c.2131G>A

1 paper

NM_015107.3

p.P738_A739insT

c.2212_2216ins3

1 paper

NM_015107.3

p.S758fs

c.2272_2273fs

1 paper

NM_015107.3

p.L762fs

c.2284_2285fs

1 paper

NM_015107.3

p.R778_P779delFs

c.2332_2336del5

1 paper

NM_015107.3

p.A797S

c.2389G>T