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.L12P

c.35T>C

Surrounding Variants

1 paper

NM_004959.5

p.L12M

c.34C>A

3 papers

NM_004959.5

p.C13R

c.37T>C

3 papers

NM_004959.5

p.C13S

c.37T>A

1 paper

NM_004959.5

p.E11D

c.33G>T

1 paper

NM_004959.5

p.E11D

c.33G>C

3 papers

NM_004959.5

p.C13S

c.38G>C

5 papers

NM_004959.5

p.E11*

c.31G>T

1 paper

NM_004959.5

p.E11K

c.31G>A

2 papers

NM_004959.5

p.L12_C13insFs

c.35_38dup4

2 papers

NM_004959.5

p.C13*

c.39C>A

2 papers

NM_004959.5

p.P14S

c.40C>T

1 paper

NM_004959.5

p.D10D

c.30C>T