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.Y586*

c.1758C>A

Surrounding Variants

1 paper

NM_006618.5

p.Y586C

c.1757A>G

1 paper

NM_006618.5

p.T581S

c.1741A>T

1 paper

NM_006618.5

p.E598G

c.1793A>G

1 paper

NM_006618.5

p.C574*

c.1722T>A

1 paper

NM_001314042.2

p.A635T

c.1903G>A

1 paper

NM_006618.5

p.N572D

c.1714A>G

1 paper

NM_006618.5

p.R570Q

c.1709G>A

4 papers

NM_001314042.2

p.R606*

c.1816C>T

NM_006618.5

p.R570*

c.1708C>T

1 paper

NM_006618.5

p.T604A

c.1810A>G

1 paper

NM_006618.5

p.V568L

c.1702G>C

1 paper

NM_006618.5

p.G611V

c.1832G>T

1 paper

NM_006618.5

p.R612Q

c.1835G>A