Varaico: Literature-Extracted Genetic Variants

Gene:NR4A2

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
1–12 of 257 variants
15 papers
NM_006186.4
p.A6_Q7insFs
c.18_19insG
8 papers
NM_006186.4
p.H103R
c.308A>G
7 papers
NM_006186.4
p.M97V
c.289A>G
7 papers
NM_006186.4
p.Q109insFs
c.325dupC
7 papers
NM_006186.4
p.Q109insFs
c.326_327insA
6 papers
NM_006186.4
p.A53T
c.157G>A
6 papers
NM_006186.4
p.S110fs
c.328_329fs
6 papers
NM_006186.4
p.S125C
c.374C>G
5 papers
NM_006186.4
p.H103H
c.309C>T
5 papers
NM_006186.4
p.Q109fs
c.325_326fs
5 papers
NM_006186.4
p.C305Y
c.914G>A
5 papers
NM_006186.4
p.V307G
c.920T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."