Varaico: Literature-Extracted Genetic Variants

RORA

117 papers

RefSeq Summary

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enh...

Pfam Domains

zf-C4aa 16–85UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 253–439UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

RAR related orphan receptor A

HGNC Alias Symbols

RZRA; ROR3; NR1F1; ROR-alpha; RORalpha; RORa1; RORα

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_134261.3

p.N114_C115del1

c.341_343delAGT

Surrounding Variants

1 paper

NM_134261.3

p.N114_C115del2

c.340_344del6

1 paper

NM_134261.3

p.R119*

c.355C>T

2 papers

NM_134261.3

p.P110L

c.329C>T

1 paper

NM_134262.3

p.S66fs

c.196_197fs

2 papers

NM_134260.3

p.R162*

c.484C>T

NM_134261.3

p.R129*

c.385C>T

1 paper

NM_134261.3

p.R98K

c.293G>A

1 paper

NM_002943.4

p.L159H

c.476T>A

1 paper

NM_134261.3

p.A135P

c.403G>C

1 paper

NM_134261.3

p.R140Q

c.419G>A

1 paper

NM_134261.3

p.A142Splc

c.425-1G>A

1 paper

NM_134261.3

p.A142_V143delFs

c.426_429del4

1 paper

NM_134261.3

p.F145_G146del2

c.433_437del6