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.L120M

c.358C>A

Surrounding Variants

1 paper

NM_004959.5

p.K119R

c.356A>G

1 paper

NM_004959.5

p.E121K

c.361G>A

2 papers

NM_004959.5

p.E121fs

c.361_362fs

1 paper

NM_004959.5

p.T122A

c.364A>G

2 papers

NM_004959.5

p.G117G

c.351C>G

1 paper

NM_004959.5

p.G117D

c.350G>A

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.G123_P124insFs

c.369_370insC

1 paper

NM_004959.5

p.G123G

c.369G>C

1 paper

NM_004959.5

p.G123delFs

c.369delC

3 papers

NM_004959.5

p.P124fs

c.370_371fs