Varaico: Literature-Extracted Genetic Variants

Gene:RXRA
Variant:p.N16I

RXRA

248 papers

RefSeq Summary

Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. Th...

Pfam Domains

Nuc_recep-AF1aa 17–127UCSCNuclear/hormone receptor activator site AF-1
Nuc_recep-AF1aa 17–127UCSCNuclear/hormone receptor activator site AF-1
zf-C4aa 133–202UCSCDouble treble clef zinc finger, C4 type
zf-C4aa 133–202UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 256–442UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

retinoid X receptor alpha

HGNC Alias Symbols

NR2B1; RXRalpha; RXR-alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002957.6
p.N16I
c.47A>T
Surrounding Variants
1 paper
NM_002957.6
p.T20fs
c.58_59fs
1 paper
NM_002957.6
p.S21A
c.61T>G
1 paper
NM_002957.6
p.S21Y
c.62C>A
1 paper
NM_002957.6
p.D10E
c.30T>A
1 paper
NM_002957.6
p.D10D
c.30T>C
1 paper
NM_002957.6
p.P22L
c.65C>T
4 papers
NM_002957.6
p.T23M
c.68C>T
1 paper
NM_002957.6
p.S27C
c.80C>G
1 paper
NM_002957.6
p.A29V
c.86C>T
1 paper
NM_002957.6
p.A29A
c.87T>A
1 paper
NM_002957.6
p.L33P
c.98T>C
1 paper
NM_002957.6
p.G40S
c.118G>A
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