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.Q112H

c.336G>T

Surrounding Variants

1 paper

NM_004959.5

p.Q112H

c.336G>C

1 paper

NM_004959.5

p.R114fs

c.340_341fs

3 papers

NM_004959.5

p.R114W

c.340C>T

1 paper

NM_004959.5

p.K110_A111delFs

c.330_331delCC

1 paper

NM_004959.5

p.R114Q

c.341G>A

6 papers

NM_004959.5

p.A115V

c.344C>T

1 paper

NM_004959.5

p.Q108delFs

c.323delT

1 paper

NM_004959.5

p.Q108P

c.323A>C

1 paper

NM_004959.5

p.G117D

c.350G>A

1 paper

NM_004959.5

p.Q108fs

c.322_323fs

2 papers

NM_004959.5

p.G117G

c.351C>G

8 papers

NM_004959.5

p.Q107*

c.319C>T