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.V346_P347del1

c.1038_1040delGGA

Surrounding Variants

1 paper

NM_006618.5

p.G349insFs

c.1045_1046insC

1 paper

NM_006618.5

p.D345A

c.1034A>C

1 paper

NM_001314042.2

p.W387*

c.1160G>A

1 paper

NM_001314042.2

p.W387*

c.1161G>A

1 paper

NM_006618.5

p.C353F

c.1058G>T

1 paper

NM_006618.5

p.H335D

c.1003C>G

1 paper

NM_006618.5

p.D332A

c.995A>C

1 paper

NM_006618.5

p.C330W

c.990T>G

2 papers

NM_006618.5

p.D328A

c.983A>C

1 paper

NM_006618.5

p.D328H

c.982G>C

1 paper

NM_006618.5

p.L325insFs

c.974dupT

1 paper

NM_006618.5

p.D322A

c.965A>C