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

2 papers

NM_004959.5

p.A82Splc

c.244+1G>A

Surrounding Variants

4 papers

NM_004959.5

p.A82Splc

c.244+1G>T

1 paper

NM_004959.5

p.A82Splc

c.244+1G>C

3 papers

NM_004959.5

p.A82S

c.244G>T

1 paper

NM_004959.5

p.T75_L80insFs

c.224_240dup17

1 paper

NM_004959.5

p.A82Splc

c.244+5G>C

2 papers

NM_004959.5

p.E81K

c.241G>A

1 paper

NM_004959.5

p.L80delFs

c.238delG

3 papers

NM_004959.5

p.L80fs

c.238_239fs

15 papers

NM_004959.5

p.M78I

c.234G>T

15 papers

NM_004959.5

p.M78I

c.234G>C

15 papers

NM_004959.5

p.M78I

c.234G>A

1 paper

NM_004959.5

p.M78fs

c.232_233fs