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.Y47insFs

c.140_141ins4

Surrounding Variants

5 papers

NM_004959.5

p.Y47C

c.140A>G

1 paper

NM_004959.5

p.T48R

c.143C>G

1 paper

NM_004959.5

p.Y47_T48insFs

c.141_144dup4

11 papers

NM_004959.5

p.N44del1

c.130_131delGTT

2 papers

NM_004959.5

p.C49fs

c.145_146fs

32 papers

NM_004959.5

p.C49Y

c.146G>A

1 paper

NM_004959.5

p.K45R

c.134A>G

1 paper

NM_004959.5

p.K45insFs

c.134_135insT

1 paper

NM_004959.5

p.K45E

c.133A>G

1 paper

NM_004959.5

p.T50I

c.149C>T

1 paper

NM_004959.5

p.T50T

c.150C>A

3 papers

NM_004959.5

p.E51*

c.151G>T