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.D864N

c.2590G>A

Surrounding Variants

1 paper

NM_006618.5

p.F872L

c.2614T>C

1 paper

NM_006618.5

p.F872L

c.2616T>G

1 paper

NM_006618.5

p.F872L

c.2616T>A

2 papers

NM_006618.5

p.Q873*

c.2617C>T

1 paper

NM_006618.5

p.Q874H

c.2622G>T

1 paper

NM_006618.5

p.Q874H

c.2622G>C

1 paper

NM_006618.5

p.S876C

c.2626A>T

1 paper

NM_006618.5

p.E883*

c.2647G>T

1 paper

NM_006618.5

p.E883V

c.2648A>T

1 paper

NM_006618.5

p.E883fs

c.2647_2648fs

1 paper

NM_006618.5

p.D892Y

c.2674G>T

1 paper

NM_006618.5

p.E899*

c.2695G>T