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

2 papers

NM_000965.5

p.R387L

c.1160G>T

Surrounding Variants

2 papers

NM_000965.5

p.R387H

c.1160G>A

8 papers

NM_000965.5

p.R387S

c.1159C>A

14 papers

NM_000965.5

p.R387C

c.1159C>T

NM_001290216.3

p.R394C

c.1180C>T

1 paper

NM_000965.5

p.V388A

c.1163T>C

1 paper

NM_000965.5

p.G384D

c.1151G>A

1 paper

NM_000965.5

p.L391insFs

c.1171dupT

1 paper

NM_000965.5

p.G397fs

c.1189_1190fs

3 papers

NM_000965.5

p.S398*

c.1193C>A

3 papers

NM_000965.5

p.S398*

c.1193C>G

4 papers

NM_000965.5

p.P401insFs

c.1201_1202insCT

1 paper

NM_000965.5

p.L402V

c.1204C>G

1 paper

NM_000965.5

p.L402P

c.1205T>C