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.V213M

c.637G>A

Surrounding Variants

1 paper

NM_006186.4

p.H210Y

c.628C>T

1 paper

NM_006186.4

p.A207V

c.620C>T

1 paper

NM_006186.4

p.V220L

c.658G>T

1 paper

NM_006186.4

p.P204R

c.611C>G

1 paper

NM_006186.4

p.P204S

c.610C>T

1 paper

NM_006186.4

p.P201delFs

c.603delG

1 paper

NM_006186.4

p.P201fs

c.601_602fs

1 paper

NM_006186.4

p.V200_P201insFs

c.598_601dup4

1 paper

NM_006186.4

p.P201insFs

c.601_602ins4

1 paper

NM_006186.4

p.P201fs

c.601_602fs

1 paper

NM_006186.4

p.R225fs

c.673_674fs

1 paper

NM_006186.4

p.H199L

c.596A>T