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.S10_S11insFs

c.30_31insG

Surrounding Variants

1 paper

NM_006186.4

p.S11fs

c.31_32fs

1 paper

NM_006186.4

p.S11*

c.32C>A

1 paper

NM_006186.4

p.G9R

c.25G>C

1 paper

NM_006186.4

p.G9R

c.25G>A

1 paper

NM_006186.4

p.Y8N

c.22T>A

1 paper

NM_006186.4

p.Q13Q

c.39A>G

1 paper

NM_006186.4

p.G14_A15insT

c.40_44ins3

1 paper

NM_006186.4

p.Q7R

c.20A>G

1 paper

NM_006186.4

p.Q7P

c.20A>C

15 papers

NM_006186.4

p.A6_Q7insFs

c.18_19insG

1 paper

NM_006186.4

p.A6delFs

c.18delC

1 paper

NM_006186.4

p.A6A

c.18G>A