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

2 papers

NM_134261.3

p.I341N

c.1022T>A

Surrounding Variants

2 papers

NM_134260.3

p.R373delFs

c.1118delC

NM_134261.3

p.R340delFs

c.1019delC

2 papers

NM_134260.3

p.R373fs

c.1117_1118fs

NM_134261.3

p.R340fs

c.1018_1019fs

1 paper

NM_134261.3

p.K339T

c.1016A>C

1 paper

NM_134261.3

p.I341_G343del3

c.1021_1028del9

1 paper

NM_134261.3

p.L322_I325insFs

c.966_975dup10

1 paper

NM_134261.3

p.L322insFs

c.965_966insC

2 papers

NM_134261.3

p.Q315fs

c.943_944fs

1 paper

NM_134261.3

p.F372S

c.1115T>C

1 paper

NM_134260.3

p.N409H

c.1225A>C

1 paper

NM_134261.3

p.V379G

c.1136T>G

1 paper

NM_002943.4

p.K409Q

c.1225A>C

1 paper

NM_134261.3

p.E307*

c.919G>T