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.E199V

c.596A>T

Surrounding Variants

1 paper

NM_004959.5

p.E199E

c.597G>A

2 papers

NM_004959.5

p.P200S

c.598C>T

5 papers

NM_004959.5

p.P198L

c.593C>T

2 papers

NM_004959.5

p.Y197*

c.591C>G

3 papers

NM_004959.5

p.Y197*

c.591C>A

2 papers

NM_004959.5

p.Y201*

c.603T>G

2 papers

NM_004959.5

p.Y201*

c.603T>A

1 paper

NM_004959.5

p.S195Fs

c.585delinsCCFs

1 paper

NM_004959.5

p.S195F

c.584C>T

1 paper

NM_004959.5

p.P204S

c.610C>T

1 paper

NM_004959.5

p.K194R

c.581A>G

1 paper

NM_004959.5

p.P205fs

c.613_614fs