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

1 paper

NM_001042603.3

p.E1436A

c.4307A>C

Surrounding Variants

2 papers

NM_001042603.3

p.G1440R

c.4318G>C

2 papers

NM_001042603.3

p.G1440R

c.4318G>A

1 paper

NM_001042603.3

p.P1432H

c.4295C>A

1 paper

NM_001042603.3

p.R1428L

c.4283G>T

1 paper

NM_001042603.3

p.R1428Q

c.4283G>A

1 paper

NM_001042603.3

p.L1445V

c.4333C>G

2 papers

NM_001042603.3

p.E1446Q

c.4336G>C

1 paper

NM_001042603.3

p.S1423R

c.4269C>G

1 paper

NM_001042603.3

p.S1423R

c.4269C>A

1 paper

NM_001042603.3

p.S1423R

c.4267A>C

2 papers

NM_001042603.3

p.R1421Q

c.4262G>A

1 paper

NM_001042603.3

p.P1420R

c.4259C>G