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

67 papers

NM_004959.5

p.G146A

c.437G>C

Surrounding Variants

1 paper

NM_004959.5

p.E148*

c.442G>T

1 paper

NM_004959.5

p.E148delFs

c.442delC

1 paper

NM_004959.5

p.E148fs

c.442_443fs

1 paper

NM_004959.5

p.E148E

c.444G>A

1 paper

NM_004959.5

p.S143insFs

c.427dupA

6 papers

NM_004959.5

p.P142_S143insFs

c.424_427dup4

1 paper

NM_004959.5

p.S143N

c.428G>A

1 paper

NM_004959.5

p.P149P

c.447C>T

3 papers

NM_004959.5

p.S143fs

c.427_428fs

1 paper

NM_004959.5

p.P142R

c.425C>G

1 paper

NM_004959.5

p.L140_P141del1

c.419_421delGCA

1 paper

NM_004959.5

p.P141S

c.421C>T