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.R98G

c.292C>G

Surrounding Variants

2 papers

NM_006618.5

p.R98C

c.292C>T

1 paper

NM_006618.5

p.R98H

c.293G>A

2 papers

NM_006618.5

p.E94_A95Splc

c.283-2A>G

1 paper

NM_006618.5

p.H122delFs

c.365_366delAT

1 paper

NM_006618.5

p.D129Y

c.385G>T

1 paper

NM_006618.5

p.V137fs

c.409_410fs

2 papers

NM_006618.5

p.L136_V137delFs

c.408_411del4

2 papers

NM_006618.5

p.G141R

c.421G>C

1 paper

NM_006618.5

p.G142*

c.424G>T

1 paper

NM_006618.5

p.R150T

c.449G>C

1 paper

NM_006618.5

p.K154insFs

c.460dupA

1 paper

NM_006618.5

p.M159K

c.476T>A