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.E1178K

c.3532G>A

Surrounding Variants

1 paper

NM_001042603.3

p.W1183R

c.3547T>C

1 paper

NM_001042603.3

p.W1183R

c.3547T>A

1 paper

NM_001042603.3

p.W1183C

c.3549G>T

1 paper

NM_001042603.3

p.W1183C

c.3549G>C

1 paper

NM_001042603.3

p.S1187N

c.3560G>A

1 paper

NM_001042603.3

p.K1168M

c.3503A>T

1 paper

NM_001042603.3

p.K1168R

c.3503A>G

1 paper

NM_001042603.3

p.R1167C

c.3499C>T

1 paper

NM_001042603.3

p.P1190A

c.3568C>G

2 papers

NM_001042603.3

p.K1162Q

c.3484A>C

1 paper

NM_001042603.3

p.E1160_V1161del2

c.3478_3482del6

2 papers

NM_001042603.3

p.E1160_V1161del1

c.3479_3481delCTT