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.K1136N

c.3408A>T

Surrounding Variants

1 paper

NM_001042603.3

p.K1136N

c.3408A>C

1 paper

NM_001042603.3

p.E1137K

c.3409G>A

1 paper

NM_001042603.3

p.A1140T

c.3418G>A

1 paper

NM_001042603.3

p.E1132*

c.3394G>T

1 paper

NM_001042603.3

p.E1132K

c.3394G>A

1 paper

NM_001042603.3

p.L1144L

c.3432C>G

1 paper

NM_001042603.3

p.A1128E

c.3383C>A

1 paper

NM_001042603.3

p.A1146T

c.3436G>A

1 paper

NM_001042603.3

p.V1155insFs

c.3463_3464insT

4 papers

NM_001042603.3

p.R1157C

c.3469C>T

1 paper

NM_001042603.3

p.R1157S

c.3469C>A

3 papers

NM_001042603.3

p.R1157H

c.3470G>A