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

54 papers

NM_004959.5

p.R92W

c.274C>T

Surrounding Variants

1 paper

NM_004959.5

p.R92G

c.274C>G

63 papers

NM_004959.5

p.R92Q

c.275G>A

1 paper

NM_004959.5

p.R92Fs

c.274_275delinsTFs

4 papers

NM_004959.5

p.G91D

c.272G>A

1 paper

NM_004959.5

p.G91C

c.271G>T

22 papers

NM_004959.5

p.G91S

c.271G>A

1 paper

NM_004959.5

p.G90V

c.269G>T

3 papers

NM_004959.5

p.G90C

c.268G>T

7 papers

NM_004959.5

p.G90R

c.268G>C

1 paper

NM_004959.5

p.G90S

c.268G>A

1 paper

NM_004959.5

p.K94Q

c.280A>C

1 paper

NM_004959.5

p.R89S

c.267G>T