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.D380Splc

c.1138+1G>A

Surrounding Variants

3 papers

NM_004959.5

p.D380Splc

c.1138+1G>T

1 paper

NM_004959.5

p.D380Y

c.1138G>T

1 paper

NM_004959.5

p.D380H

c.1138G>C

1 paper

NM_004959.5

p.D380Splc

c.1138+5G>A

1 paper

NM_004959.5

p.F377F

c.1131C>T

6 papers

NM_004959.5

p.L376F

c.1126C>T

2 papers

NM_004959.5

p.C370_F373del4

c.1108_1118del12

6 papers

NM_004959.5

p.K372del1

c.1114_1116delCTT

1 paper

NM_004959.5

p.K372delFs

c.1114_1115delTT

2 papers

NM_004959.5

p.C370W

c.1110C>G

3 papers

NM_004959.5

p.V369_C370delFs

c.1106_1109del4

6 papers

NM_004959.5

p.C370Y

c.1109G>A