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.F70fs

c.208_209fs

Surrounding Variants

2 papers

NM_004959.5

p.F70L

c.208T>C

2 papers

NM_004959.5

p.R69delFs

c.207delG

1 paper

NM_004959.5

p.F70S

c.209T>C

1 paper

NM_004959.5

p.R69R

c.207C>A

1 paper

NM_004959.5

p.R69P

c.206G>C

3 papers

NM_004959.5

p.R69H

c.206G>A

2 papers

NM_004959.5

p.F70L

c.210C>G

2 papers

NM_004959.5

p.F70L

c.210C>A

5 papers

NM_004959.5

p.R69G

c.205C>G

1 paper

NM_004959.5

p.C68Y

c.203G>A

1 paper

NM_004959.5

p.C68R

c.202T>C

1 paper

NM_004959.5

p.C73R

c.217T>C