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.P251S

c.751C>T

Surrounding Variants

1 paper

NM_004959.5

p.P251L

c.752C>T

1 paper

NM_004959.5

p.E250*

c.748G>T

1 paper

NM_004959.5

p.T252T

c.756C>A

4 papers

NM_004959.5

p.C247*

c.741C>A

2 papers

NM_004959.5

p.C247S

c.740G>C

1 paper

NM_004959.5

p.S254S

c.762C>T

1 paper

NM_004959.5

p.S254R

c.762C>A

2 papers

NM_004959.5

p.C247S

c.739T>A

6 papers

NM_004959.5

p.R255C

c.763C>T

1 paper

NM_004959.5

p.R255insFs

c.763_764ins8

2 papers

NM_004959.5

p.R255fs

c.763_764fs

2 papers

NM_004959.5

p.K253_S254del2

c.757_761del6