Varaico: Literature-Extracted Genetic Variants

Gene:RARA
Variant:p.R83H

RARA

579 papers

RefSeq Summary

This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulat...

Pfam Domains

zf-C4aa 86–155UCSCDouble treble clef zinc finger, C4 type
zf-C4aa 86–155UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 222–401UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

retinoic acid receptor alpha

HGNC Alias Symbols

RAR; NR1B1; RARalpha; RAR-alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_000964.4
p.R83H
c.248G>A
Surrounding Variants
1 paper
NM_000964.4
p.R83L
c.248G>T
1 paper
NM_000964.4
p.I84V
c.250A>G
1 paper
NM_000964.4
p.P82A
c.244C>G
1 paper
NM_000964.4
p.R83delFs
c.247delC
1 paper
NM_000964.4
p.P80A
c.238C>G
1 paper
NM_000964.4
p.P80S
c.238C>T
1 paper
NM_000964.4
p.P79A
c.235C>G
1 paper
NM_000964.4
p.P78P
c.234A>C
2 papers
NM_000964.4
p.P78P
c.234A>T
1 paper
NM_000964.4
p.C88G
c.262T>G
2 papers
NM_000964.4
p.P78L
c.233C>T
1 paper
NM_000964.4
p.P78A
c.232C>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."