Varaico: Literature-Extracted Genetic Variants

Gene:RXRA
Variant:p.I68L

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.I68L
c.202A>C
Surrounding Variants
1 paper
NM_002957.6
p.F65L
c.195C>A
1 paper
NM_002957.6
p.P64H
c.191C>A
1 paper
NM_002957.6
p.P63L
c.188C>T
1 paper
NM_002957.6
p.P63S
c.187C>T
1 paper
NM_002957.6
p.G60A
c.179G>C
2 papers
NM_002957.6
p.S76S
c.228C>A
1 paper
NM_002957.6
p.S76S
c.228C>T
1 paper
NM_002957.6
p.S78L
c.233C>T
1 paper
NM_002957.6
p.V79fs
c.235_236fs
1 paper
NM_002957.6
p.S56_G62del0
c.168_185del18
1 paper
NM_002957.6
p.V79V
c.237G>A
1 paper
NM_002957.6
p.V79_P80insFs
c.237_238insGC
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