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.F178fs

c.532_533fs

Surrounding Variants

2 papers

NM_006186.4

p.S177A

c.529T>G

1 paper

NM_006186.4

p.K179fs

c.535_536fs

1 paper

NM_006186.4

p.K179*

c.535A>T

1 paper

NM_006186.4

p.F178delFs

c.534delA

1 paper

NM_006186.4

p.K179N

c.537G>T

1 paper

NM_006186.4

p.K179N

c.537G>C

1 paper

NM_006186.4

p.K179delFs

c.536delT

1 paper

NM_006186.4

p.S181A

c.541T>G

1 paper

NM_006186.4

p.S181L

c.542C>T

1 paper

NM_006186.4

p.P183fs

c.547_548fs

1 paper

NM_006186.4

p.P183delFs

c.548delG

1 paper

NM_006186.4

p.P186L

c.557C>T