Varaico: Literature-Extracted Genetic Variants

Gene:RXRA
Variant:p.G429R

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.G429R
c.1285G>A
Surrounding Variants
1 paper
NM_002957.6
p.G429R
c.1285G>C
1 paper
NM_002957.6
p.I428M
c.1284C>G
1 paper
NM_002957.6
p.L430F
c.1288C>T
11 papers
NM_002957.6
p.S427Y
c.1280C>A
31 papers
NM_002957.6
p.S427F
c.1280C>T
1 paper
NM_002957.6
p.S427insFs
c.1279_1280insAC
1 paper
NM_002957.6
p.R426H
c.1277G>A
1 paper
NM_002957.6
p.R426_S427insFs
c.1278_1279insAC
1 paper
NM_002957.6
p.E434A
c.1301A>C
1 paper
NM_002957.6
p.F439del1
c.1315_1317delTTC
1 paper
NM_002957.6
p.R421H
c.1262G>A
1 paper
NM_002957.6
p.R421L
c.1262G>T
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