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

9 papers

NM_004959.5

p.V20L

c.58G>C

Surrounding Variants

8 papers

NM_004959.5

p.V20L

c.58G>T

1 paper

NM_004959.5

p.K19M

c.56A>T

1 paper

NM_004959.5

p.C16_K19del0

c.47_55del9

1 paper

NM_004959.5

p.V20ins9

c.59_60ins27

1 paper

NM_004959.5

p.K19E

c.55A>G

1 paper

NM_004959.5

p.C16_D18delFs

c.47_54del8

3 papers

NM_004959.5

p.S21F

c.62C>T

1 paper

NM_004959.5

p.S21S

c.63C>T

1 paper

NM_004959.5

p.D18delFs

c.52delC

3 papers

NM_004959.5

p.G22C

c.64G>T

5 papers

NM_004959.5

p.G22S

c.64G>A

1 paper

NM_004959.5

p.D18N

c.52G>A