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.D6N

c.16G>A

Surrounding Variants

1 paper

NM_004959.5

p.Y5*

c.15C>G

1 paper

NM_004959.5

p.Y5*

c.15C>A

1 paper

NM_004959.5

p.D6E

c.18C>G

3 papers

NM_004959.5

p.D6fs

c.16_17fs

1 paper

NM_004959.5

p.D6E

c.18C>A

4 papers

NM_004959.5

p.Y5D

c.13T>G

1 paper

NM_004959.5

p.Y5N

c.13T>A

7 papers

NM_004959.5

p.E7*

c.19G>T

1 paper

NM_004959.5

p.E7K

c.19G>A

11 papers

NM_004959.5

p.D6delFs

c.18delG

1 paper

NM_004959.5

p.Y3_D6del4

c.7_17del12

5 papers

NM_004959.5

p.S4*

c.11C>A