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.R448insFs

c.1342dupC

Surrounding Variants

1 paper

NM_004959.5

p.R448H

c.1343G>A

1 paper

NM_004959.5

p.R448insFs

c.1344dupC

2 papers

NM_004959.5

p.P447L

c.1340C>T

1 paper

NM_004959.5

p.M446I

c.1338G>T

1 paper

NM_004959.5

p.M446I

c.1338G>C

1 paper

NM_004959.5

p.M446I

c.1338G>A

1 paper

NM_004959.5

p.M446R

c.1337T>G

1 paper

NM_004959.5

p.M446T

c.1337T>C

1 paper

NM_004959.5

p.M446V

c.1336A>G

1 paper

NM_004959.5

p.L451R

c.1352T>G

3 papers

NM_004959.5

p.E445*

c.1333G>T

2 papers

NM_004959.5

p.L451L

c.1353G>A