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.K446R

c.1337A>G

Surrounding Variants

1 paper

NM_006618.5

p.E451K

c.1351G>A

1 paper

NM_006618.5

p.R441*

c.1321C>T

1 paper

NM_001314042.2

p.E488_E489Splc

c.1464+3A>G

1 paper

NM_006618.5

p.G437R

c.1309G>C

1 paper

NM_006618.5

p.G435R

c.1303G>C

1 paper

NM_006618.5

p.A430insFs

c.1290dupC

1 paper

NM_001314042.2

p.I465S

c.1394T>G

1 paper

NM_006618.5

p.D420insFs

c.1258dupG

2 papers

NM_006618.5

p.K408_W411del4

c.1222_1232del12

1 paper

NM_006618.5

p.N460D

c.1378A>G

1 paper

NM_006618.5

p.N460H

c.1378A>C

1 paper

NM_006618.5

p.M467Fs

c.1399delinsGCFs