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.A104_K106Fs

c.312_317delinsAGFs

Surrounding Variants

1 paper

NM_004959.5

p.K106I

c.317A>T

1 paper

NM_004959.5

p.K106insFs

c.316_317insT

1 paper

NM_004959.5

p.K106delins

c.317delinsAGAAGAAGGC

1 paper

NM_004959.5

p.L105L

c.315G>A

8 papers

NM_004959.5

p.Q107*

c.319C>T

1 paper

NM_004959.5

p.L105fs

c.313_314fs

1 paper

NM_004959.5

p.Q108fs

c.322_323fs

1 paper

NM_004959.5

p.Q108P

c.323A>C

1 paper

NM_004959.5

p.Q108delFs

c.323delT

12 papers

NM_004959.5

p.R103Q

c.308G>A

2 papers

NM_004959.5

p.R103W

c.307C>T

1 paper

NM_004959.5

p.R103G

c.307C>G