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.L389P

c.1166T>C

Surrounding Variants

1 paper

NM_004959.5

p.K391*

c.1171A>T

1 paper

NM_004959.5

p.N385fs

c.1153_1154fs

2 papers

NM_004959.5

p.L384delFs

c.1151delA

1 paper

NM_004959.5

p.Q394*

c.1180C>T

1 paper

NM_004959.5

p.Q394K

c.1180C>A

2 papers

NM_004959.5

p.L384delFs

c.1150delG

1 paper

NM_004959.5

p.Q394P

c.1181A>C

1 paper

NM_004959.5

p.L389_Q394del0

c.1166_1180del15

3 papers

NM_004959.5

p.L384fs

c.1150_1151fs

1 paper

NM_004959.5

p.E395*

c.1183G>T

1 paper

NM_004959.5

p.F383L

c.1149C>G

1 paper

NM_004959.5

p.F383L

c.1149C>A