Varaico: Literature-Extracted Genetic Variants

Gene:RXRA
Variant:p.A121T

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
3 papers
NM_002957.6
p.A121T
c.361G>A
Surrounding Variants
1 paper
NM_002957.6
p.G115G
c.345C>T
1 paper
NM_002957.6
p.N126K
c.378C>A
1 paper
NM_002957.6
p.M127T
c.380T>C
1 paper
NM_002957.6
p.N114Y
c.340A>T
1 paper
NM_002957.6
p.S129F
c.386C>T
1 paper
NM_002957.6
p.G112fs
c.334_335fs
1 paper
NM_002957.6
p.F130Y
c.389T>A
1 paper
NM_002957.6
p.L111Q
c.332T>A
3 papers
NM_002957.6
p.L111fs
c.331_332fs
2 papers
NM_002957.6
p.L111insFs
c.331dupC
1 paper
NM_002957.6
p.L111delFs
c.331delC
1 paper
NM_002957.6
p.K108R
c.323A>G
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