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

1–12 of 812 variants

67 papers

NM_004959.5

p.G146A

c.437G>C

63 papers

NM_004959.5

p.R92Q

c.275G>A

54 papers

NM_004959.5

p.R92W

c.274C>T

32 papers

NM_004959.5

p.C49Y

c.146G>A

32 papers

NM_004959.5

p.R255L

c.764G>T

30 papers

NM_004959.5

p.R84H

c.251G>A

30 papers

NM_004959.5

p.R313C

c.937C>T

26 papers

NM_004959.5

p.P129L

c.386C>T

25 papers

NM_004959.5

p.V15M

c.43G>A

24 papers

NM_004959.5

p.D293N

c.877G>A

23 papers

NM_004959.5

p.V355M

c.1063G>A

23 papers

NM_004959.5

p.L437Q

c.1310T>A