Varaico: Literature-Extracted Genetic Variants

Gene:NR4A2
Variant:p.L35L

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.L35L
c.105A>G
Surrounding Variants
1 paper
NM_006186.4
p.Y30_S31insG
c.88_92ins3
1 paper
NM_006186.4
p.S27S
c.81G>T
1 paper
NM_006186.4
p.S27S
c.81G>A
1 paper
NM_006186.4
p.M44_D45insA
c.130_134ins3
3 papers
NM_006186.4
p.S19delFs
c.56delG
6 papers
NM_006186.4
p.A53T
c.157G>A
2 papers
NM_006186.4
p.A18T
c.52G>A
1 paper
NM_006186.4
p.A15insFs
c.44_45insA
1 paper
NM_006186.4
p.A15T
c.43G>A
1 paper
NM_006186.4
p.S56S
c.168T>A
1 paper
NM_006186.4
p.G14_A15insT
c.40_44ins3
1 paper
NM_006186.4
p.Q13Q
c.39A>G
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