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.K1411N

c.4233G>T

Surrounding Variants

1 paper

NM_006618.5

p.K1411N

c.4233G>C

1 paper

NM_006618.5

p.R1397Q

c.4190G>A

2 papers

NM_006618.5

p.R1397*

c.4189C>T

1 paper

NM_006618.5

p.P1433S

c.4297C>T

1 paper

NM_006618.5

p.K1435R

c.4304A>G

2 papers

NM_006618.5

p.R1455H

c.4364G>A

1 paper

NM_006618.5

p.Y1457H

c.4369T>C

1 paper

NM_006618.5

p.E1458*

c.4372G>T

2 papers

NM_006618.5

p.R1461C

c.4381C>T

2 papers

NM_006618.5

p.S1480insFs

c.4440dupT

1 paper

NM_006618.5

p.E1481fs

c.4441_4442fs

1 paper

NM_006618.5

p.S1491N

c.4472G>A