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.Q652K

c.1954C>A

Surrounding Variants

1 paper

NM_001314042.2

p.D690N

c.2068G>A

1 paper

NM_006618.5

p.M658T

c.1973T>C

1 paper

NM_006618.5

p.C634*

c.1902C>A

1 paper

NM_006618.5

p.M632L

c.1894A>T

1 paper

NM_006618.5

p.M632L

c.1894A>C

1 paper

NM_006618.5

p.L672_G673Splc

c.2016+2T>C

1 paper

NM_006618.5

p.L672_G673Splc

c.2016+4A>G

2 papers

NM_006618.5

p.H629H

c.1887C>T

1 paper

NM_006618.5

p.L621_H622insFs

c.1863_1864ins4

1 paper

NM_006618.5

p.Y618S

c.1853A>C

1 paper

NM_006618.5

p.R612Q

c.1835G>A

1 paper

NM_006618.5

p.G611V

c.1832G>T