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

2 papers

NM_004959.5

p.A176A

c.528C>A

Surrounding Variants

1 paper

NM_004959.5

p.A176fs

c.526_527fs

7 papers

NM_004959.5

p.G178R

c.532G>C

8 papers

NM_004959.5

p.G178R

c.532G>A

1 paper

NM_004959.5

p.P174_G178Fs

c.522_534delinsGGFs

2 papers

NM_004959.5

p.G178G

c.534G>A

3 papers

NM_004959.5

p.P179fs

c.535_536fs

1 paper

NM_004959.5

p.P174_G178delFs

c.522_534del13

9 papers

NM_004959.5

p.P179delFs

c.536delG

1 paper

NM_004959.5

p.V173E

c.518T>A

1 paper

NM_004959.5

p.L180delFs

c.538delG

6 papers

NM_004959.5

p.V173M

c.517G>A

1 paper

NM_004959.5

p.L180_A181insFs

c.540_541insT