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.E330D

c.990G>C

Surrounding Variants

1 paper

NM_004959.5

p.E330D

c.990G>T

3 papers

NM_004959.5

p.E330E

c.990G>A

1 paper

NM_004959.5

p.E330_V331Splc

c.990+1G>A

3 papers

NM_004959.5

p.Q329_E330Fs

c.987_988delinsAFs

1 paper

NM_004959.5

p.Q329fs

c.985_986fs

1 paper

NM_004959.5

p.G328_Q329delFs

c.984_985delGC

1 paper

NM_004959.5

p.Q329fs

c.985_986fs

4 papers

NM_004959.5

p.Q329*

c.985C>T

1 paper

NM_004959.5

p.G328delFs

c.984delC

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.G328W

c.982G>T