Varaico: Literature-Extracted Genetic Variants

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.E313*

c.937G>T

Surrounding Variants

1 paper

NM_000965.5

p.P311S

c.931C>T

1 paper

NM_000965.5

p.E318D

c.954A>C

1 paper

NM_000965.5

p.E318D

c.954A>T

1 paper

NM_000965.5

p.T304delins

c.910_911delinsAA

1 paper

NM_000965.5

p.L327F

c.981A>T

1 paper

NM_000965.5

p.C329Y

c.986G>A

4 papers

NM_000965.5

p.G296A

c.887G>C

1 paper

NM_000965.5

p.D331Splc

c.991+1G>A

1 paper

NM_000965.5

p.G294V

c.881G>T

1 paper

NM_000965.5

p.A293V

c.878C>T

1 paper

NM_000965.5

p.N292D

c.874A>G

1 paper

NM_000965.5

p.N292Y

c.874A>T