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.S140N

c.419G>A

Surrounding Variants

1 paper

NM_006186.4

p.P146L

c.437C>T

2 papers

NM_006186.4

p.G147R

c.439G>A

1 paper

NM_006186.4

p.T129P

c.385A>C

2 papers

NM_006186.4

p.P128delFs

c.383delG

1 paper

NM_006186.4

p.P128L

c.383C>T

1 paper

NM_006186.4

p.P128fs

c.382_383fs

1 paper

NM_006186.4

p.P127L

c.380C>T

1 paper

NM_006186.4

p.P127S

c.379C>T

1 paper

NM_006186.4

p.Q154K

c.460C>A

1 paper

NM_006186.4

p.S126A

c.376T>G

1 paper

NM_006186.4

p.N155Y

c.463A>T

6 papers

NM_006186.4

p.S125C

c.374C>G