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.S125C

c.374C>G

Surrounding Variants

1 paper

NM_006186.4

p.S126A

c.376T>G

1 paper

NM_006186.4

p.P127S

c.379C>T

1 paper

NM_006186.4

p.P127L

c.380C>T

1 paper

NM_006186.4

p.Y122del1

c.364_366delGTA

1 paper

NM_006186.4

p.P128fs

c.382_383fs

1 paper

NM_006186.4

p.P128L

c.383C>T

2 papers

NM_006186.4

p.P128delFs

c.383delG

1 paper

NM_006186.4

p.T129P

c.385A>C

1 paper

NM_006186.4

p.V120V

c.360T>A

1 paper

NM_006186.4

p.V120I

c.358G>A

2 papers

NM_006186.4

p.P115P

c.345G>A

1 paper

NM_006186.4

p.S140N

c.419G>A