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

2 papers

NM_006186.4

p.H239H

c.717C>T

Surrounding Variants

1 paper

NM_006186.4

p.A240T

c.718G>A

2 papers

NM_006186.4

p.I237I

c.711C>A

1 paper

NM_006186.4

p.Q242delFs

c.724delG

2 papers

NM_006186.4

p.L244insFs

c.732dupC

1 paper

NM_006186.4

p.G231fs

c.691_692fs

1 paper

NM_006186.4

p.G231delFs

c.692delC

1 paper

NM_006186.4

p.P249S

c.745C>T

1 paper

NM_006186.4

p.P227P

c.681C>A

1 paper

NM_006186.4

p.P252Q

c.755C>A

1 paper

NM_006186.4

p.S253L

c.758C>T

1 paper

NM_006186.4

p.R225fs

c.673_674fs

1 paper

NM_006186.4

p.S258F

c.773C>T