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.D309N

c.925G>A

Surrounding Variants

2 papers

NM_004959.5

p.D309V

c.926A>T

4 papers

NM_004959.5

p.H310D

c.928C>G

2 papers

NM_004959.5

p.H310P

c.929A>C

1 paper

NM_004959.5

p.L306M

c.916C>A

1 paper

NM_004959.5

p.L305L

c.915G>C

3 papers

NM_004959.5

p.E304_L305delFs

c.910_913del4

30 papers

NM_004959.5

p.R313C

c.937C>T

4 papers

NM_004959.5

p.R313L

c.938G>T

20 papers

NM_004959.5

p.R313H

c.938G>A

1 paper

NM_004959.5

p.R313delins

c.938_939delinsTT

1 paper

NM_004959.5

p.E304V

c.911A>T

3 papers

NM_004959.5

p.E304K

c.910G>A