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.L359R

c.1076T>G

Surrounding Variants

3 papers

NM_004959.5

p.L359fs

c.1075_1076fs

3 papers

NM_004959.5

p.L358insFs

c.1074dupG

2 papers

NM_004959.5

p.L358P

c.1073T>C

1 paper

NM_004959.5

p.A360V

c.1079C>T

1 paper

NM_004959.5

p.L361fs

c.1081_1082fs

1 paper

NM_004959.5

p.L361insFs

c.1081dupC

3 papers

NM_004959.5

p.L361P

c.1082T>C

2 papers

NM_004959.5

p.Q357R

c.1070A>G

5 papers

NM_004959.5

p.Q357*

c.1069C>T

2 papers

NM_004959.5

p.Q362fs

c.1084_1085fs

1 paper

NM_004959.5

p.Q362*

c.1084C>T

2 papers

NM_004959.5

p.L361delFs

c.1083delC