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.V369_C370delFs

c.1106_1109del4

Surrounding Variants

2 papers

NM_004959.5

p.C370W

c.1110C>G

6 papers

NM_004959.5

p.C370Y

c.1109G>A

3 papers

NM_004959.5

p.V369F

c.1105G>T

4 papers

NM_004959.5

p.V369fs

c.1105_1106fs

1 paper

NM_004959.5

p.K372delFs

c.1114_1115delTT

6 papers

NM_004959.5

p.K372del1

c.1114_1116delCTT

3 papers

NM_004959.5

p.E367G

c.1100A>G

1 paper

NM_004959.5

p.E367delFs

c.1099delC

2 papers

NM_004959.5

p.C370_F373del4

c.1108_1118del12

1 paper

NM_004959.5

p.E367fs

c.1099_1100fs

1 paper

NM_004959.5

p.Q366*

c.1096C>T

3 papers

NM_004959.5

p.R365P

c.1094G>C