Varaico: Literature-Extracted Genetic Variants

Gene:RARG
Variant:p.L307L

RARG

111 papers

RefSeq Summary

This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands...

Pfam Domains

zf-C4aa 88–157UCSCDouble treble clef zinc finger, C4 type
zf-C4aa 88–157UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 224–403UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

retinoic acid receptor gamma

HGNC Alias Symbols

RARC; NR1B3; RARgamma; RAR-gamma

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000966.6
p.L307L
c.921C>T
Surrounding Variants
2 papers
NM_000966.6
p.A315A
c.945T>A
1 paper
NM_000966.6
p.G316E
c.947G>A
1 paper
NM_000966.6
p.L321L
c.961C>T
1 paper
NM_000966.6
p.E322A
c.965A>C
1 paper
NM_000966.6
p.E327*
c.979G>T
1 paper
NM_000966.6
p.R278M
c.833G>T
1 paper
NM_000966.6
p.C276Y
c.827G>A
1 paper
NM_000966.6
p.M342R
c.1025T>G
1 paper
NM_000966.6
p.E345*
c.1033G>T
1 paper
NM_000966.6
p.E348*
c.1042G>T
2 papers
NM_000966.6
p.P356S
c.1066C>T
1 paper
NM_000966.6
p.E359*
c.1075G>T
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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."