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

1–12 of 357 variants

8 papers

NM_006618.5

p.R1047*

c.3139C>T

7 papers

NM_006618.5

p.Y755*

c.2265C>A

6 papers

NM_006618.5

p.Y755*

c.2265C>G

6 papers

NM_006618.5

p.R1543*

c.4627C>T

4 papers

NM_006618.5

p.E903Q

c.2707G>C

3 papers

NM_006618.5

p.W70R

c.208T>C

3 papers

NM_006618.5

p.W70R

c.208T>A

3 papers

NM_006618.5

p.R177*

c.529C>T

3 papers

NM_006618.5

p.A388P

c.1162G>C

3 papers

NM_006618.5

p.F394insFs

c.1182dupC

3 papers

NM_006618.5

p.L511insFs

c.1533dupG

3 papers

NM_006618.5

p.R570*

c.1708C>T