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.C16R

c.46T>C

Surrounding Variants

1 paper

NM_004959.5

p.V15A

c.44T>C

1 paper

NM_004959.5

p.C16C

c.48C>T

16 papers

NM_004959.5

p.C16*

c.48C>A

25 papers

NM_004959.5

p.V15M

c.43G>A

2 papers

NM_004959.5

p.G17V

c.50G>T

1 paper

NM_004959.5

p.P14L

c.41C>T

1 paper

NM_004959.5

p.D18N

c.52G>A

2 papers

NM_004959.5

p.P14S

c.40C>T

2 papers

NM_004959.5

p.P14fs

c.40_41fs

1 paper

NM_004959.5

p.D18fs

c.52_53fs

2 papers

NM_004959.5

p.L12_C13insFs

c.35_38dup4

2 papers

NM_004959.5

p.C13*

c.39C>A