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.E336K

c.1006G>A

Surrounding Variants

1 paper

NM_000965.5

p.D334N

c.1000G>A

1 paper

NM_000965.5

p.L344P

c.1031T>C

1 paper

NM_000965.5

p.E346delFs

c.1037_1038delAA

1 paper

NM_000965.5

p.E346E

c.1038A>G

1 paper

NM_000965.5

p.K353K

c.1059A>G

1 paper

NM_000965.5

p.R360*

c.1078C>T

1 paper

NM_000965.5

p.P364L

c.1091C>T

1 paper

NM_000965.5

p.R378C

c.1132C>T

3 papers

NM_000965.5

p.G384D

c.1151G>A

1 paper

NM_000965.5

p.G384Splc

c.1150+1G>T

1 paper

NM_000965.5

p.D331Splc

c.991+1G>A

1 paper

NM_000965.5

p.C329Y

c.986G>A