Varaico: Literature-Extracted Genetic Variants

Gene:RXRA
Variant:p.R421H

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.R421H
c.1262G>A
Surrounding Variants
1 paper
NM_002957.6
p.R421L
c.1262G>T
1 paper
NM_002957.6
p.R421C
c.1261C>T
1 paper
NM_002957.6
p.L420L
c.1260C>G
1 paper
NM_002957.6
p.L418L
c.1254C>G
1 paper
NM_002957.6
p.A416D
c.1247C>A
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.A416T
c.1246G>A
1 paper
NM_002957.6
p.S427insFs
c.1279_1280insAC
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.I428M
c.1284C>G
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