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

2 papers

NM_004959.5

p.F36L

c.108C>G

Surrounding Variants

1 paper

NM_004959.5

p.F36F

c.108C>T

2 papers

NM_004959.5

p.F36L

c.108C>A

2 papers

NM_004959.5

p.F36L

c.106T>C

1 paper

NM_004959.5

p.F37S

c.110T>C

2 papers

NM_004959.5

p.G35G

c.105C>A

2 papers

NM_004959.5

p.G35delins

c.104_105delinsAA

6 papers

NM_004959.5

p.G35V

c.104G>T

1 paper

NM_004959.5

p.G35A

c.104G>C

15 papers

NM_004959.5

p.G35D

c.104G>A

2 papers

NM_004959.5

p.K38*

c.112A>T

1 paper

NM_004959.5

p.K38M

c.113A>T

3 papers

NM_004959.5

p.R39C

c.115C>T