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.L347Q

c.1040T>A

Surrounding Variants

1 paper

NM_004959.5

p.V348M

c.1042G>A

1 paper

NM_004959.5

p.S346N

c.1037G>A

1 paper

NM_004959.5

p.R350W

c.1048C>T

1 paper

NM_004959.5

p.L344P

c.1031T>C

1 paper

NM_004959.5

p.R350L

c.1049G>T

6 papers

NM_004959.5

p.A351V

c.1052C>T

3 papers

NM_004959.5

p.A351E

c.1052C>A

1 paper

NM_004959.5

p.S342S

c.1026G>A

1 paper

NM_004959.5

p.S342L

c.1025C>T

1 paper

NM_004959.5

p.S342*

c.1025C>A

1 paper

NM_004959.5

p.E353Q

c.1057G>C

2 papers

NM_004959.5

p.E353fs

c.1057_1058fs