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

1 paper

NM_006186.4

p.L83V

c.247C>G

Surrounding Variants

1 paper

NM_006186.4

p.P82A

c.244C>G

1 paper

NM_006186.4

p.G85E

c.254G>A

1 paper

NM_006186.4

p.Q86fs

c.256_257fs

1 paper

NM_006186.4

p.Q86Q

c.258G>A

1 paper

NM_006186.4

p.S88P

c.262T>C

1 paper

NM_006186.4

p.S88F

c.263C>T

1 paper

NM_006186.4

p.S89insFs

c.265_266insGG

1 paper

NM_006186.4

p.S89A

c.265T>G

3 papers

NM_006186.4

p.P75S

c.223C>T

2 papers

NM_006186.4

p.V92A

c.275T>C

1 paper

NM_006186.4

p.D72N

c.214G>A

2 papers

NM_006186.4

p.G70D

c.209G>A