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.R101W

c.301C>T

Surrounding Variants

1 paper

NM_004959.5

p.R101P

c.302G>C

1 paper

NM_004959.5

p.D102fs

c.304_305fs

1 paper

NM_004959.5

p.D102G

c.305A>G

1 paper

NM_004959.5

p.D102delFs

c.304delC

2 papers

NM_004959.5

p.G96_D102delFs

c.288_304del17

1 paper

NM_004959.5

p.Y99F

c.296A>T

1 paper

NM_004959.5

p.Y99H

c.295T>C

2 papers

NM_004959.5

p.R103W

c.307C>T

1 paper

NM_004959.5

p.R103G

c.307C>G

12 papers

NM_004959.5

p.R103Q

c.308G>A

1 paper

NM_004959.5

p.M98insFs

c.293_294insC

3 papers

NM_004959.5

p.M98fs

c.292_293fs