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

23 papers

NM_004959.5

p.L437Q

c.1310T>A

Surrounding Variants

3 papers

NM_004959.5

p.L437fs

c.1309_1310fs

2 papers

NM_004959.5

p.Y436C

c.1307A>G

1 paper

NM_004959.5

p.Y436delFs

c.1306delA

1 paper

NM_004959.5

p.E435D

c.1305G>T

1 paper

NM_004959.5

p.E435D

c.1305G>C

1 paper

NM_004959.5

p.H439Y

c.1315C>T

1 paper

NM_004959.5

p.H439D

c.1315C>G

1 paper

NM_004959.5

p.E435delFs

c.1303delC

2 papers

NM_004959.5

p.Y436_Y438delFs

c.1308_1314del7

1 paper

NM_004959.5

p.E435fs

c.1303_1304fs

1 paper

NM_004959.5

p.K440E

c.1318A>G

1 paper

NM_004959.5

p.K440M

c.1319A>T