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.G151delFs

c.453delG

Surrounding Variants

1 paper

NM_004959.5

p.A154S

c.460G>T

3 papers

NM_004959.5

p.A154T

c.460G>A

1 paper

NM_004959.5

p.A154A

c.462C>G

1 paper

NM_004959.5

p.P149P

c.447C>T

1 paper

NM_004959.5

p.E148fs

c.442_443fs

1 paper

NM_004959.5

p.E148E

c.444G>A

1 paper

NM_004959.5

p.P156insFs

c.467_468insT

1 paper

NM_004959.5

p.P156Q

c.467C>A

1 paper

NM_004959.5

p.E148delFs

c.442delC

1 paper

NM_004959.5

p.E148*

c.442G>T

1 paper

NM_004959.5

p.P157T

c.469C>A

1 paper

NM_004959.5

p.P157H

c.470C>A