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

7 papers

NM_004959.5

p.Y183*

c.549C>G

Surrounding Variants

1 paper

NM_004959.5

p.Y183_L184insFs

c.549_550insG

6 papers

NM_004959.5

p.Y183*

c.549C>A

1 paper

NM_004959.5

p.G182_Y183insFs

c.546_547ins4

2 papers

NM_004959.5

p.L184delFs

c.552delG

1 paper

NM_004959.5

p.G182A

c.545G>C

1 paper

NM_004959.5

p.A181del1

c.541_543delAGC

2 papers

NM_004959.5

p.Y185fs

c.553_554fs

1 paper

NM_004959.5

p.L180_A181del2

c.538_542del6

2 papers

NM_004959.5

p.Y185*

c.555C>G

2 papers

NM_004959.5

p.Y185*

c.555C>A

2 papers

NM_004959.5

p.P186S

c.556C>T

1 paper

NM_004959.5

p.P186L

c.557C>T