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.L428P

c.1283T>C

Surrounding Variants

1 paper

NM_134261.3

p.M429I

c.1287G>A

1 paper

NM_134261.3

p.F426_M429del4

c.1276_1286del12

1 paper

NM_134261.3

p.A431P

c.1291G>C

1 paper

NM_134261.3

p.L410F

c.1230A>T

2 papers

NM_134261.3

p.S409R

c.1227T>G

2 papers

NM_134261.3

p.S409R

c.1227T>A

2 papers

NM_134261.3

p.S409R

c.1225A>C

1 paper

NM_134261.3

p.K408N

c.1224G>T

1 paper

NM_134261.3

p.G407E

c.1220G>A

1 paper

NM_134262.3

p.G340delFs

c.1019delC

1 paper

NM_134261.3

p.K441R

c.1322A>G

1 paper

NM_134261.3

p.R462Q

c.1385G>A