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

4 papers

NM_004959.5

p.L28F

c.82C>T

Surrounding Variants

4 papers

NM_004959.5

p.T29M

c.86C>T

4 papers

NM_004959.5

p.T29R

c.86C>G

7 papers

NM_004959.5

p.T29K

c.86C>A

2 papers

NM_004959.5

p.G26V

c.77G>T

3 papers

NM_004959.5

p.G26A

c.77G>C

6 papers

NM_004959.5

p.G26E

c.77G>A

1 paper

NM_004959.5

p.C30S

c.88T>A

1 paper

NM_004959.5

p.G26*

c.76G>T

5 papers

NM_004959.5

p.G26R

c.76G>C

5 papers

NM_004959.5

p.G26R

c.76G>A

1 paper

NM_004959.5

p.G26fs

c.76_77fs

1 paper

NM_004959.5

p.C30S

c.89G>C