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.G162G

c.486C>T

Surrounding Variants

1 paper

NM_004959.5

p.F164fs

c.490_491fs

1 paper

NM_004959.5

p.D163delFs

c.489delG

5 papers

NM_004959.5

p.G165R

c.493G>C

5 papers

NM_004959.5

p.G165R

c.493G>A

1 paper

NM_004959.5

p.G159R

c.475G>C

2 papers

NM_004959.5

p.G159R

c.475G>A

1 paper

NM_004959.5

p.P167S

c.499C>T

1 paper

NM_004959.5

p.P167fs

c.499_500fs

4 papers

NM_004959.5

p.A158P

c.472G>C

4 papers

NM_004959.5

p.A158T

c.472G>A

1 paper

NM_004959.5

p.P167delFs

c.500delG

1 paper

NM_004959.5

p.A168P

c.502G>C