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

2 papers

NM_004959.5

p.C247S

c.740G>C

Surrounding Variants

2 papers

NM_004959.5

p.C247S

c.739T>A

4 papers

NM_004959.5

p.C247*

c.741C>A

3 papers

NM_004959.5

p.G246D

c.737G>A

1 paper

NM_004959.5

p.L245fs

c.733_734fs

1 paper

NM_004959.5

p.L245delFs

c.734delA

1 paper

NM_004959.5

p.L245W

c.734T>G

1 paper

NM_004959.5

p.E250*

c.748G>T

2 papers

NM_004959.5

p.I244V

c.730A>G

1 paper

NM_004959.5

p.P251S

c.751C>T

1 paper

NM_004959.5

p.R243H

c.728G>A

1 paper

NM_004959.5

p.P251L

c.752C>T

1 paper

NM_004959.5

p.R243C

c.727C>T