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

11 papers

NM_001042603.3

p.M865T

c.2594T>C

Surrounding Variants

1 paper

NM_001042603.3

p.E867K

c.2599G>A

1 paper

NM_001042603.3

p.V853_E862del10

c.2557_2585del30

1 paper

NM_001042603.3

p.A863T

c.2587G>A

1 paper

NM_001042603.3

p.A860V

c.2579C>T

1 paper

NM_001042603.3

p.K873E

c.2617A>G

1 paper

NM_001042603.3

p.H857R

c.2570A>G

1 paper

NM_001042603.3

p.D879N

c.2635G>A

1 paper

NM_001042603.3

p.M880T

c.2639T>C

1 paper

NM_001042603.3

p.G881C

c.2641G>T

1 paper

NM_001042603.3

p.G881V

c.2642G>T

1 paper

NM_001042603.3

p.S882C

c.2645C>G

1 paper

NM_001042603.3

p.K847_N848Splc

c.2542-8C>T