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

10 papers

NM_004959.5

p.Y138*

c.414C>G

Surrounding Variants

11 papers

NM_004959.5

p.Y138*

c.414C>A

1 paper

NM_004959.5

p.V139_L140insFs

c.417_418insA

1 paper

NM_004959.5

p.L140_P141ins4

c.418_422ins12

1 paper

NM_004959.5

p.D137Y

c.409G>T

4 papers

NM_004959.5

p.P136L

c.407C>T

1 paper

NM_004959.5

p.P141S

c.421C>T

1 paper

NM_004959.5

p.L140_P141del1

c.419_421delGCA

1 paper

NM_004959.5

p.P134_A135insFs

c.402_403insC

1 paper

NM_004959.5

p.A135T

c.403G>A

3 papers

NM_004959.5

p.P132_P134del3

c.394_401del9

1 paper

NM_004959.5

p.P142R

c.425C>G

1 paper

NM_004959.5

p.P134R

c.401C>G