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.P132L

c.395C>T

Surrounding Variants

2 papers

NM_004959.5

p.P133fs

c.397_398fs

2 papers

NM_004959.5

p.P131fs

c.391_392fs

5 papers

NM_004959.5

p.P131P

c.393G>A

12 papers

NM_004959.5

p.P131L

c.392C>T

1 paper

NM_004959.5

p.P131R

c.392C>G

1 paper

NM_004959.5

p.P133insFs

c.398_399insG

2 papers

NM_004959.5

p.P133delFs

c.398delG

3 papers

NM_004959.5

p.P131fs

c.391_392fs

10 papers

NM_004959.5

p.P130delFs

c.390delC

3 papers

NM_004959.5

p.P130delFs

c.389delG

1 paper

NM_004959.5

p.P134_A135insT

c.400_404ins3

2 papers

NM_004959.5

p.P130L

c.389C>T