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

1–12 of 158 variants

17 papers

NM_015107.3

p.F279S

c.836T>C

6 papers

NM_015107.3

p.K177*

c.529A>T

5 papers

NM_015107.3

p.R211*

c.631C>T

3 papers

NM_015107.3

p.S577Splc

c.1731-2A>G

2 papers

NM_015107.3

p.L278F

c.832C>T

2 papers

NM_015107.3

p.P314fs

c.940_941fs

2 papers

NM_015107.3

p.Q343*

c.1027C>T

2 papers

NM_015107.3

p.L344F

c.1030C>T

2 papers

NM_015107.3

p.G372G

c.1116A>C

2 papers

NM_015107.3

p.R653*

c.1957C>T

2 papers

NM_015107.3

p.E666fs

c.1996_1997fs

2 papers

NM_015107.3

p.E666delFs

c.1996delC