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.K1294N

c.3882G>T

Surrounding Variants

1 paper

NM_001042603.3

p.K1294N

c.3882G>C

1 paper

NM_001042603.3

p.T1292insFs

c.3874dupA

1 paper

NM_001042603.3

p.T1292fs

c.3874_3875fs

1 paper

NM_001042603.3

p.A1298S

c.3892G>T

1 paper

NM_001042603.3

p.A1298V

c.3893C>T

1 paper

NM_001042603.3

p.E1290K

c.3868G>A

1 paper

NM_001042603.3

p.R1289Q

c.3866G>A

1 paper

NM_001042603.3

p.R1289*

c.3865C>T

1 paper

NM_001042603.3

p.Q1286L

c.3857A>T

2 papers

NM_001042603.3

p.A1303V

c.3908C>T

1 paper

NM_001042603.3

p.E1285G

c.3854A>G

1 paper

NM_001042603.3

p.M1283V

c.3847A>G