Varaico: Literature-Extracted Genetic Variants

NR4A2

320 papers

RefSeq Summary

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorde...

Pfam Domains

zf-C4aa 261–330UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 391–579UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 4 group A member 2

HGNC Previous Symbol

NURR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_006186.4

p.A53T

c.157G>A

Surrounding Variants

1 paper

NM_006186.4

p.S56S

c.168T>A

1 paper

NM_006186.4

p.S59fs

c.175_176fs

1 paper

NM_006186.4

p.P58insFs

c.174dupC

1 paper

NM_006186.4

p.T62A

c.184A>G

1 paper

NM_006186.4

p.M44_D45insA

c.130_134ins3

1 paper

NM_006186.4

p.Y67C

c.200A>G

1 paper

NM_173173.3

p.T6insFs

c.16_17insG

2 papers

NM_006186.4

p.G70D

c.209G>A

1 paper

NM_006186.4

p.L35L

c.105A>G

1 paper

NM_006186.4

p.D72N

c.214G>A

3 papers

NM_006186.4

p.P75S

c.223C>T

1 paper

NM_006186.4

p.Y30_S31insG

c.88_92ins3