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

4 papers

NM_004959.5

p.Q316fs

c.946_947fs

Surrounding Variants

3 papers

NM_004959.5

p.Q316*

c.946C>T

4 papers

NM_004959.5

p.Q316delFs

c.946delG

1 paper

NM_004959.5

p.V315insFs

c.944_945insCA

1 paper

NM_004959.5

p.V315F

c.943G>T

1 paper

NM_004959.5

p.H317insFs

c.949_950ins5

1 paper

NM_004959.5

p.Q316delFs

c.948delC

2 papers

NM_004959.5

p.G318S

c.952G>A

1 paper

NM_004959.5

p.H317delFs

c.951delG

1 paper

NM_004959.5

p.R313delins

c.938_939delinsTT

4 papers

NM_004959.5

p.R313L

c.938G>T

20 papers

NM_004959.5

p.R313H

c.938G>A

30 papers

NM_004959.5

p.R313C

c.937C>T