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.M1_D2delFs

c.3_6del4

Surrounding Variants

3 papers

NM_004959.5

p.Y3*

c.9T>G

4 papers

NM_004959.5

p.Y3*

c.9T>A

1 paper

NM_004959.5

p.D2A

c.5A>C

1 paper

NM_004959.5

p.M1insFs

c.3dupG

1 paper

NM_004959.5

p.S4A

c.10T>G

1 paper

NM_004959.5

p.D2N

c.4G>A

10 papers

NM_004959.5

p.M1I

c.3G>T

10 papers

NM_004959.5

p.M1I

c.3G>C

9 papers

NM_004959.5

p.M1I

c.3G>A

5 papers

NM_004959.5

p.S4*

c.11C>A

1 paper

NM_004959.5

p.M1insFs

c.1dupA

1 paper

NM_004959.5

p.M1T

c.2T>C