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.I323S

c.968T>G

Surrounding Variants

3 papers

NM_004959.5

p.I323T

c.968T>C

1 paper

NM_004959.5

p.L325P

c.974T>C

1 paper

NM_004959.5

p.G321V

c.962G>T

2 papers

NM_004959.5

p.V326A

c.977T>C

1 paper

NM_004959.5

p.E320*

c.958G>T

1 paper

NM_004959.5

p.T327T

c.981C>T

2 papers

NM_004959.5

p.G328W

c.982G>T

3 papers

NM_004959.5

p.G328R

c.982G>C

3 papers

NM_004959.5

p.G328R

c.982G>A

4 papers

NM_004959.5

p.G328V

c.983G>T

1 paper

NM_004959.5

p.G328E

c.983G>A

2 papers

NM_004959.5

p.G318S

c.952G>A