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.P130L

c.389C>T

Surrounding Variants

3 papers

NM_004959.5

p.P130delFs

c.389delG

3 papers

NM_004959.5

p.P130fs

c.388_389fs

4 papers

NM_004959.5

p.P130A

c.388C>G

3 papers

NM_004959.5

p.P131fs

c.391_392fs

1 paper

NM_004959.5

p.P129P

c.387C>T

10 papers

NM_004959.5

p.P130delFs

c.390delC

26 papers

NM_004959.5

p.P129L

c.386C>T

12 papers

NM_004959.5

p.P131L

c.392C>T

1 paper

NM_004959.5

p.P131R

c.392C>G

2 papers

NM_004959.5

p.P131fs

c.391_392fs

5 papers

NM_004959.5

p.P131P

c.393G>A

1 paper

NM_004959.5

p.G127delFs

c.380delC