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.D320A

c.959A>C

Surrounding Variants

1 paper

NM_006618.5

p.E321A

c.962A>C

1 paper

NM_006618.5

p.D322A

c.965A>C

1 paper

NM_006618.5

p.L325insFs

c.974dupT

1 paper

NM_006618.5

p.D328H

c.982G>C

2 papers

NM_006618.5

p.D328A

c.983A>C

1 paper

NM_006618.5

p.V311A

c.932T>C

1 paper

NM_006618.5

p.Y310F

c.929A>T

1 paper

NM_006618.5

p.C330W

c.990T>G

1 paper

NM_006618.5

p.D332A

c.995A>C

1 paper

NM_006618.5

p.D308A

c.923A>C

1 paper

NM_006618.5

p.H335D

c.1003C>G

1 paper

NM_006618.5

p.D345A

c.1034A>C