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.Q417fs

c.1249_1250fs

Surrounding Variants

2 papers

NM_004959.5

p.Q417*

c.1249C>T

1 paper

NM_004959.5

p.Q417R

c.1250A>G

1 paper

NM_004959.5

p.Q417delFs

c.1250delT

3 papers

NM_004959.5

p.Q418insFs

c.1252_1253ins4

1 paper

NM_004959.5

p.Q418H

c.1254G>T

1 paper

NM_004959.5

p.Q418H

c.1254G>C

1 paper

NM_004959.5

p.K415R

c.1244A>G

1 paper

NM_004959.5

p.L419Q

c.1256T>A

1 paper

NM_004959.5

p.L420L

c.1258C>T

1 paper

NM_004959.5

p.L420P

c.1259T>C

5 papers

NM_004959.5

p.C412*

c.1236C>A

1 paper

NM_004959.5

p.L421insFs

c.1262dupT