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.S228_P229delFs

c.683_686del4

Surrounding Variants

1 paper

NM_134261.3

p.P227delFs

c.680delG

1 paper

NM_134261.3

p.P241L

c.722C>T

1 paper

NM_134261.3

p.E242_I244del3

c.724_731del9

1 paper

NM_134261.3

p.K213_A214insFs

c.639_640insT

1 paper

NM_134261.3

p.E210D

c.630G>T

1 paper

NM_134261.3

p.E210D

c.630G>C

1 paper

NM_134261.3

p.F254L

c.760T>C

1 paper

NM_134261.3

p.F254L

c.762T>G

1 paper

NM_134261.3

p.F254L

c.762T>A

2 papers

NM_134261.3

p.C257*

c.771T>A

1 paper

NM_134261.3

p.G262insFs

c.785dupG

1 paper

NM_134261.3

p.T194_E195del2

c.580_584del6