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

3 papers

NM_004959.5

p.I227T

c.680T>C

Surrounding Variants

1 paper

NM_004959.5

p.I227N

c.680T>A

1 paper

NM_004959.5

p.L228L

c.684G>C

1 paper

NM_004959.5

p.E225fs

c.673_674fs

3 papers

NM_004959.5

p.L230R

c.689T>G

1 paper

NM_004959.5

p.P224L

c.671C>T

2 papers

NM_004959.5

p.Y211_V223delFs

c.632_668del37

1 paper

NM_004959.5

p.L231L

c.691C>T

1 paper

NM_004959.5

p.L230_L231insFs

c.690_691dupGC

1 paper

NM_004959.5

p.L231P

c.692T>C

3 papers

NM_004959.5

p.P221_L230del0

c.661_690del30

1 paper

NM_004959.5

p.V223M

c.667G>A

9 papers

NM_004959.5

p.N222delFs

c.666delG