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.C55G

c.163T>G

Surrounding Variants

1 paper

NM_004959.5

p.C55S

c.163T>A

1 paper

NM_004959.5

p.C55F

c.164G>T

1 paper

NM_004959.5

p.C55S

c.164G>C

1 paper

NM_004959.5

p.C55Y

c.164G>A

3 papers

NM_004959.5

p.Y47_S54del8

c.139_161del24

3 papers

NM_004959.5

p.S54R

c.162C>G

3 papers

NM_004959.5

p.S54R

c.162C>A

3 papers

NM_004959.5

p.S54R

c.160A>C

1 paper

NM_004959.5

p.Y47_C55del9

c.139_164del27

1 paper

NM_004959.5

p.Q53H

c.159G>C

4 papers

NM_004959.5

p.Q53L

c.158A>T

1 paper

NM_004959.5

p.D58Y

c.172G>T