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

2 papers

NM_004959.5

p.L384delFs

c.1150delG

Surrounding Variants

2 papers

NM_004959.5

p.L384delFs

c.1151delA

3 papers

NM_004959.5

p.L384fs

c.1150_1151fs

1 paper

NM_004959.5

p.F383L

c.1149C>G

1 paper

NM_004959.5

p.F383L

c.1149C>A

1 paper

NM_004959.5

p.N385fs

c.1153_1154fs

1 paper

NM_004959.5

p.F383L

c.1147T>C

4 papers

NM_004959.5

p.K382N

c.1146G>T

4 papers

NM_004959.5

p.K382N

c.1146G>C

1 paper

NM_004959.5

p.L381*

c.1142T>A

2 papers

NM_004959.5

p.L381V

c.1141T>G

2 papers

NM_004959.5

p.D380fs

c.1138_1139fs

1 paper

NM_004959.5

p.D380G

c.1139A>G