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.P30A

c.88C>G

Surrounding Variants

1 paper

NM_134261.3

p.D21E

c.63C>G

1 paper

NM_134261.3

p.D21E

c.63C>A

1 paper

NM_134261.3

p.S39G

c.115A>G

1 paper

NM_134261.3

p.K38_S39delFs

c.114_115delTC

1 paper

NM_134261.3

p.S49fs

c.145_146fs

1 paper

NM_134261.3

p.S49delFs

c.145_146delCT

1 paper

NM_134261.3

p.P8H

c.23C>A

1 paper

NM_134261.3

p.M1L

c.1A>T

1 paper

NM_134261.3

p.M1L

c.1A>C