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

6 papers

NM_001042603.3

p.R782Q

c.2345G>A

Surrounding Variants

1 paper

NM_001042603.3

p.R782*

c.2344C>T

1 paper

NM_001042603.3

p.R785M

c.2354G>T

1 paper

NM_001042603.3

p.R785S

c.2355G>T

1 paper

NM_001042603.3

p.R785S

c.2355G>C

1 paper

NM_001042603.3

p.A787_V788insTT

c.2359_2363ins6

1 paper

NM_001042603.3

p.D772V

c.2315A>T

1 paper

NM_001042603.3

p.A795V

c.2384C>T

1 paper

NM_001042603.3

p.S796F

c.2387C>T

3 papers

NM_001042603.3

p.M766L

c.2296A>T

3 papers

NM_001042603.3

p.M766L

c.2296A>C

1 paper

NM_001042603.3

p.V765A

c.2294T>C

2 papers

NM_001042603.3

p.R764*

c.2290C>T