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.D86V

c.257A>T

Surrounding Variants

2 papers

NM_004959.5

p.A85delFs

c.253_254delGC

3 papers

NM_004959.5

p.R87C

c.259C>T

2 papers

NM_004959.5

p.R87G

c.259C>G

1 paper

NM_004959.5

p.R84L

c.251G>T

30 papers

NM_004959.5

p.R84H

c.251G>A

20 papers

NM_004959.5

p.R84C

c.250C>T

3 papers

NM_004959.5

p.R89fs

c.265_266fs

2 papers

NM_004959.5

p.V83E

c.248T>A

3 papers

NM_004959.5

p.R89delFs

c.265delT

3 papers

NM_004959.5

p.V83L

c.247G>T

1 paper

NM_004959.5

p.R89S

c.267G>T

1 paper

NM_004959.5

p.R89fs

c.265_266fs