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.Q460R

c.1379A>G

Surrounding Variants

4 papers

NM_004959.5

p.Q460L

c.1379A>T

2 papers

NM_004959.5

p.Q460P

c.1379A>C

1 paper

NM_004959.5

p.Q460delFs

c.1379delT

1 paper

NM_004959.5

p.K459insFs

c.1377dupG

1 paper

NM_004959.5

p.Q457del1

c.1369_1370delTTG

1 paper

NM_004959.5

p.L456L

c.1368G>A

2 papers

NM_004959.5

p.E454A

c.1361A>C

2 papers

NM_004959.5

p.L452F

c.1354C>T

2 papers

NM_004959.5

p.L451L

c.1353G>A

1 paper

NM_004959.5

p.L451R

c.1352T>G

1 paper

NM_004959.5

p.R448insFs

c.1344dupC

1 paper

NM_004959.5

p.R448insFs

c.1342dupC