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

5 papers

NM_004959.5

p.C412*

c.1236C>A

Surrounding Variants

2 papers

NM_004959.5

p.C412S

c.1235G>C

2 papers

NM_004959.5

p.C412S

c.1234T>A

1 paper

NM_004959.5

p.H411H

c.1233C>T

1 paper

NM_004959.5

p.P410L

c.1229C>T

1 paper

NM_004959.5

p.K415R

c.1244A>G

5 papers

NM_004959.5

p.Y409*

c.1227C>G

6 papers

NM_004959.5

p.Y409*

c.1227C>A

1 paper

NM_004959.5

p.H408fs

c.1222_1223fs

2 papers

NM_004959.5

p.Q417fs

c.1249_1250fs

2 papers

NM_004959.5

p.Q417*

c.1249C>T

1 paper

NM_004959.5

p.H408R

c.1223A>G

2 papers

NM_004959.5

p.H408P

c.1223A>C