Varaico: Literature-Extracted Genetic Variants

NR5A1

619 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or w...

Pfam Domains

zf-C4aa 11–80UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 251–442UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 5 group A member 1

HGNC Previous Symbol

FTZF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004959.5

p.G123delFs

c.369delC

Surrounding Variants

3 papers

NM_004959.5

p.P124fs

c.370_371fs

2 papers

NM_004959.5

p.G123_P124insFs

c.369_370insC

1 paper

NM_004959.5

p.G123G

c.369G>C

21 papers

NM_004959.5

p.G123A

c.368G>C

1 paper

NM_004959.5

p.G123E

c.368G>A

2 papers

NM_004959.5

p.P125fs

c.373_374fs

3 papers

NM_004959.5

p.P125P

c.375G>A

2 papers

NM_004959.5

p.P124_P125delFs

c.370_373del4

1 paper

NM_004959.5

p.M126V

c.376A>G

1 paper

NM_004959.5

p.T122A

c.364A>G

1 paper

NM_004959.5

p.M126insFs

c.377_378ins4

2 papers

NM_004959.5

p.G127R

c.379G>C