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

3 papers

NM_004959.5

p.C73W

c.219C>G

Surrounding Variants

1 paper

NM_004959.5

p.C73C

c.219C>T

3 papers

NM_004959.5

p.C73S

c.218G>C

3 papers

NM_004959.5

p.C73Y

c.218G>A

1 paper

NM_004959.5

p.C73R

c.217T>C

2 papers

NM_004959.5

p.C73S

c.217T>A

1 paper

NM_004959.5

p.T75K

c.224C>A

4 papers

NM_004959.5

p.T75T

c.225G>C

2 papers

NM_004959.5

p.F70L

c.210C>G

2 papers

NM_004959.5

p.F70L

c.210C>A

1 paper

NM_004959.5

p.F70S

c.209T>C

2 papers

NM_004959.5

p.F70L

c.208T>C

2 papers

NM_004959.5

p.R69delFs

c.207delG