Varaico: Literature-Extracted Genetic Variants

KDM5A

442 papers

RefSeq Summary

This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by spe...

Pfam Domains

JmjNaa 20–53UCSCjmjN domain

ARIDaa 86–170UCSCARID/BRIGHT DNA binding domain

PHDaa 296–340UCSCPHD-finger

JmjCaa 470–586UCSCJmjC domain, hydroxylase

KDM5_C-helaa 590–644UCSCLysine-specific demethylase 5, C-terminal helical domain

zf-C5HC2aa 676–728UCSCC5HC2 zinc finger

Gene Aliases

HGNC Name

lysine demethylase 5A

HGNC Previous Symbols

RBBP2; JARID1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001042603.3

p.S572_G573insFs

c.1716_1717ins8

Surrounding Variants

2 papers

NM_001042603.3

p.G573E

c.1718G>A

1 paper

NM_001042603.3

p.S572C

c.1715C>G

2 papers

NM_001042603.3

p.H571N

c.1711C>A

1 paper

NM_001042603.3

p.Q576*

c.1726C>T

1 paper

NM_001042603.3

p.A569fs

c.1705_1706fs

1 paper

NM_001042603.3

p.R568L

c.1703G>T

4 papers

NM_001042603.3

p.R568H

c.1703G>A

1 paper

NM_001042603.3

p.R568C

c.1702C>T

1 paper

NM_001042603.3

p.A581T

c.1741G>A

1 paper

NM_001042603.3

p.F562I

c.1684T>A

1 paper

NM_001042603.3

p.E561K

c.1681G>A

1 paper

NM_001042603.3

p.D590H

c.1768G>C