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.Q299delFs

c.895delG

Surrounding Variants

1 paper

NM_004959.5

p.Q299_N300insFs

c.897_898insT

2 papers

NM_004959.5

p.Q299fs

c.895_896fs

2 papers

NM_004959.5

p.L298P

c.893T>C

1 paper

NM_004959.5

p.N300T

c.899A>C

3 papers

NM_004959.5

p.L297P

c.890T>C

2 papers

NM_004959.5

p.C301Y

c.902G>A

5 papers

NM_004959.5

p.W302*

c.905G>A

4 papers

NM_004959.5

p.T296M

c.887C>T

2 papers

NM_004959.5

p.W302C

c.906G>T

2 papers

NM_004959.5

p.W302C

c.906G>C

4 papers

NM_004959.5

p.W302*

c.906G>A

3 papers

NM_004959.5

p.S303R

c.907A>C