Varaico: Literature-Extracted Genetic Variants

KDM5B

245 papers

RefSeq Summary

This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and...

Pfam Domains

JmjNaa 33–66UCSCjmjN domain

ARIDaa 99–183UCSCARID/BRIGHT DNA binding domain

PHDaa 307–351UCSCPHD-finger

JmjCaa 481–597UCSCJmjC domain, hydroxylase

KDM5_C-helaa 601–655UCSCLysine-specific demethylase 5, C-terminal helical domain

zf-C5HC2aa 687–739UCSCC5HC2 zinc finger

Gene Aliases

HGNC Name

lysine demethylase 5B

HGNC Previous Symbol

JARID1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006618.5

p.F700L

c.2100C>G

Surrounding Variants

1 paper

NM_006618.5

p.F700L

c.2100C>A

1 paper

NM_006618.5

p.F700L

c.2098T>C

1 paper

NM_006618.5

p.C692R

c.2074T>C

2 papers

NM_006618.5

p.R690H

c.2069G>A

1 paper

NM_006618.5

p.R690C

c.2068C>T

1 paper

NM_006618.5

p.L685W

c.2054T>G

1 paper

NM_006618.5

p.E721K

c.2161G>A

1 paper

NM_006618.5

p.S724S

c.2172C>A

1 paper

NM_006618.5

p.Y728Y

c.2184C>T

1 paper

NM_006618.5

p.K729E

c.2185A>G

1 paper

NM_006618.5

p.L672_G673Splc

c.2017-2A>G

1 paper

NM_006618.5

p.K731*

c.2191A>T