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

1–12 of 150 variants

13 papers

NM_000965.5

p.R387C

c.1159C>T

8 papers

NM_000965.5

p.R119*

c.355C>T

8 papers

NM_000965.5

p.R387S

c.1159C>A

6 papers

NM_000965.5

p.L213P

c.638T>C

4 papers

NM_000965.5

p.G296A

c.887G>C

4 papers

NM_000965.5

p.P401insFs

c.1201_1202insCT

4 papers

NM_000965.5

p.I403fs

c.1207_1208fs

3 papers

NM_000965.5

p.Y201C

c.602A>G

3 papers

NM_000965.5

p.G282S

c.844G>A

3 papers

NM_000965.5

p.G384D

c.1151G>A

3 papers

NM_000965.5

p.S398*

c.1193C>A

3 papers

NM_000965.5

p.S398*

c.1193C>G