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

1–12 of 104 variants

3 papers

NM_134261.3

p.G92A

c.275G>C

2 papers

NM_134261.3

p.P110L

c.329C>T

2 papers

NM_134261.3

p.Q167*

c.499C>T

2 papers

NM_134261.3

p.Q169*

c.505C>T

2 papers

NM_134261.3

p.C257*

c.771T>A

2 papers

NM_134261.3

p.Q315fs

c.943_944fs

2 papers

NM_134261.3

p.I341N

c.1022T>A

2 papers

NM_134261.3

p.S409R

c.1225A>C

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.L428P

c.1283T>C

1 paper

NM_134261.3

p.M1L

c.1A>T