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.R427Q

c.1280G>A

Surrounding Variants

1 paper

NM_004959.5

p.R427P

c.1280G>C

2 papers

NM_004959.5

p.R427fs

c.1279_1280fs

4 papers

NM_004959.5

p.R427W

c.1279C>T

1 paper

NM_004959.5

p.A428S

c.1282G>T

7 papers

NM_004959.5

p.V426insFs

c.1277dupT

1 paper

NM_004959.5

p.V426G

c.1277T>G

1 paper

NM_004959.5

p.E425delFs

c.1273delC

6 papers

NM_004959.5

p.V424del1

c.1270_1271delCAC

2 papers

NM_004959.5

p.E425fs

c.1273_1274fs

4 papers

NM_004959.5

p.S430I

c.1289G>T

1 paper

NM_004959.5

p.L423insFs

c.1268_1269insCC

1 paper

NM_004959.5

p.L423delFs

c.1267delG