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.R241L

c.722G>T

Surrounding Variants

5 papers

NM_004959.5

p.R241W

c.721C>T

1 paper

NM_004959.5

p.V240V

c.720G>A

1 paper

NM_004959.5

p.E234_Q239del6

c.700_716del18

1 paper

NM_004959.5

p.R243C

c.727C>T

1 paper

NM_004959.5

p.R243G

c.727C>G

1 paper

NM_004959.5

p.A242_R243delins

c.726_727delinsTG

1 paper

NM_004959.5

p.R243H

c.728G>A

2 papers

NM_004959.5

p.I244V

c.730A>G

2 papers

NM_004959.5

p.D238Y

c.712G>T

15 papers

NM_004959.5

p.D238N

c.712G>A

1 paper

NM_004959.5

p.E237insFs

c.710dupA

1 paper

NM_004959.5

p.L245W

c.734T>G