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.K63E

c.187A>G

Surrounding Variants

3 papers

NM_004959.5

p.K63Q

c.187A>C

2 papers

NM_004959.5

p.R62L

c.185G>T

2 papers

NM_004959.5

p.R62C

c.184C>T

1 paper

NM_004959.5

p.R62G

c.184C>G

1 paper

NM_004959.5

p.R62S

c.184C>A

1 paper

NM_004959.5

p.K63delFs

c.189delC

1 paper

NM_004959.5

p.T60_Q61delFs

c.180_181delGC

1 paper

NM_004959.5

p.Q61fs

c.181_182fs

1 paper

NM_004959.5

p.Q61*

c.181C>T

11 papers

NM_004959.5

p.C65Y

c.194G>A

1 paper

NM_004959.5

p.E51_C65del15

c.151_194del45

1 paper

NM_004959.5

p.T60A

c.178A>G