Varaico: Literature-Extracted Genetic Variants

Gene:RARB
Variant:p.K121N

RARB

129 papers

RefSeq Summary

This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnu...

Pfam Domains

zf-C4aa 86–155UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 224–401UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

retinoic acid receptor beta

HGNC Alias Symbols

NR1B2; RRB2; RARbeta; RAR-beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000965.5
p.K121N
c.363G>C
Surrounding Variants
1 paper
NM_000965.5
p.K121N
c.363G>T
8 papers
NM_000965.5
p.R119*
c.355C>T
1 paper
NM_000965.5
p.K127delFs
c.381delA
1 paper
NM_000965.5
p.K111K
c.333G>A
1 paper
NM_000965.5
p.R132Q
c.395G>A
1 paper
NM_000965.5
p.R137*
c.409C>T
3 papers
NM_000965.5
p.R137Q
c.410G>A
NM_001290216.3
p.R144Q
c.431G>A
1 paper
NM_000965.5
p.G103D
c.308G>A
1 paper
NM_000965.5
p.G103C
c.307G>T
1 paper
NM_000965.5
p.K140K
c.420G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."