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

1 paper

NM_004959.5

p.A280V

c.839C>T

Surrounding Variants

3 papers

NM_004959.5

p.A280E

c.839C>A

1 paper

NM_004959.5

p.A280T

c.838G>A

1 paper

NM_004959.5

p.A280A

c.840A>C

7 papers

NM_004959.5

p.W279*

c.837G>A

5 papers

NM_004959.5

p.R281C

c.841C>T

12 papers

NM_004959.5

p.R281P

c.842G>C

7 papers

NM_004959.5

p.W279*

c.836G>A

2 papers

NM_004959.5

p.R281H

c.842G>A

5 papers

NM_004959.5

p.W279R

c.835T>C

5 papers

NM_004959.5

p.W279R

c.835T>A

3 papers

NM_004959.5

p.C283R

c.847T>C

4 papers

NM_004959.5

p.C283F

c.848G>T