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

5 papers

NM_001042603.3

p.G1116E

c.3347G>A

Surrounding Variants

1 paper

NM_001042603.3

p.E1114D

c.3342G>T

1 paper

NM_001042603.3

p.E1114D

c.3342G>C

1 paper

NM_001042603.3

p.V1126_V1127Splc

c.3378+1G>A

1 paper

NM_001042603.3

p.L1105L

c.3315G>A

4 papers

NM_001042603.3

p.D1104G

c.3311A>G

1 paper

NM_001042603.3

p.E1102Q

c.3304G>C

2 papers

NM_001042603.3

p.E1102K

c.3304G>A

5 papers

NM_001042603.3

p.E1100K

c.3298G>A

1 paper

NM_001042603.3

p.E1098K

c.3292G>A

1 paper

NM_001042603.3

p.V1093_I1097delFs

c.3277_3290del14

3 papers

NM_001042603.3

p.I1097K

c.3290T>A

1 paper

NM_001042603.3

p.E1095D

c.3285A>T