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.A269V

c.806C>T

Surrounding Variants

2 papers

NM_004959.5

p.D270N

c.808G>A

1 paper

NM_004959.5

p.R267T

c.800G>C

2 papers

NM_004959.5

p.R267K

c.800G>A

1 paper

NM_004959.5

p.Q271R

c.812A>G

1 paper

NM_004959.5

p.T272P

c.814A>C

1 paper

NM_004959.5

p.C266insFs

c.796_797ins4

2 papers

NM_004959.5

p.L265insFs

c.794_795insGC

1 paper

NM_004959.5

p.I274T

c.821T>C

1 paper

NM_004959.5

p.G263ins1

c.788_789insTCT

1 paper

NM_004959.5

p.G263S

c.787G>A

2 papers

NM_004959.5

p.S275S

c.825C>T

1 paper

NM_004959.5

p.F262Y

c.785T>A