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.L1086L

c.3258C>G

Surrounding Variants

1 paper

NM_006618.5

p.P1083S

c.3247C>T

1 paper

NM_006618.5

p.E1080D

c.3240G>T

1 paper

NM_006618.5

p.E1080D

c.3240G>C

1 paper

NM_006618.5

p.A1064G

c.3191C>G

1 paper

NM_006618.5

p.P1050P

c.3150C>G

8 papers

NM_006618.5

p.R1047*

c.3139C>T

2 papers

NM_006618.5

p.R1045*

c.3133C>T

2 papers

NM_006618.5

p.R1045G

c.3133C>G

1 paper

NM_006618.5

p.R1045_G1046insC

c.3133_3137ins3

1 paper

NM_006618.5

p.T1038_I1040del3

c.3112_3119del9

1 paper

NM_006618.5

p.I1040T

c.3119T>C

1 paper

NM_006618.5

p.R1032H

c.3095G>A