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

3 papers

NM_006618.5

p.R177*

c.529C>T

Surrounding Variants

2 papers

NM_006618.5

p.R172T

c.515G>C

1 paper

NM_006618.5

p.R172K

c.515G>A

1 paper

NM_006618.5

p.Y182C

c.545A>G

1 paper

NM_006618.5

p.L184insFs

c.551_552insC

1 paper

NM_006618.5

p.S169insFs

c.506dupC

1 paper

NM_006618.5

p.S190G

c.568A>G

1 paper

NM_006618.5

p.R192R

c.576G>A

1 paper

NM_006618.5

p.R192_C193Splc

c.576+2T>C

1 paper

NM_006618.5

p.M159K

c.476T>A

1 paper

NM_006618.5

p.K154insFs

c.460dupA

1 paper

NM_006618.5

p.R150T

c.449G>C

1 paper

NM_006618.5

p.G142*

c.424G>T