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.L407_E408insFs

c.1221_1222insC

Surrounding Variants

1 paper

NM_000965.5

p.L407P

c.1220T>C

1 paper

NM_000965.5

p.M406T

c.1217T>C

1 paper

NM_000965.5

p.E411K

c.1231G>A

3 papers

NM_000965.5

p.Q404*

c.1210C>T

1 paper

NM_000965.5

p.I403T

c.1208T>C

4 papers

NM_000965.5

p.I403fs

c.1207_1208fs

1 paper

NM_000965.5

p.L402P

c.1205T>C

1 paper

NM_000965.5

p.L402V

c.1204C>G

4 papers

NM_000965.5

p.P401insFs

c.1201_1202insCT

3 papers

NM_000965.5

p.S398*

c.1193C>A

3 papers

NM_000965.5

p.S398*

c.1193C>G

1 paper

NM_000965.5

p.G397fs

c.1189_1190fs