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.A400_L401delFs

c.1200_1201delGG

Surrounding Variants

1 paper

NM_004959.5

p.L401fs

c.1201_1202fs

1 paper

NM_004959.5

p.L402F

c.1204C>T

1 paper

NM_004959.5

p.A399_L402del0

c.1196_1204del9

3 papers

NM_004959.5

p.A400T

c.1198G>A

1 paper

NM_004959.5

p.L401_L402del0

c.1201_1206del6

1 paper

NM_004959.5

p.A399A

c.1197C>A

1 paper

NM_004959.5

p.A399V

c.1196C>T

2 papers

NM_004959.5

p.Y404D

c.1210T>G

2 papers

NM_004959.5

p.Y404C

c.1211A>G

1 paper

NM_004959.5

p.Y404insFs

c.1211_1212insTA

6 papers

NM_004959.5

p.Y404*

c.1212C>G

1 paper

NM_004959.5

p.Y404fs

c.1210_1211fs