Varaico: Literature-Extracted Genetic Variants

NR5A2

138 papers

RefSeq Summary

The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved i...

Pfam Domains

zf-C4aa 84–153UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 330–523UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 5 group A member 2

HGNC Previous Symbol

FTF

Papers

RefSeq ID

Protein change

DNA change

1–12 of 110 variants

2 papers

NM_205860.3

p.L14L

c.40T>C

2 papers

NM_205860.3

p.G398A

c.1193G>C

2 papers

NM_205860.3

p.G421A

c.1262G>C

2 papers

NM_205860.3

p.R446Q

c.1337G>A

1 paper

NM_205860.3

p.M1V

c.1A>G

1 paper

NM_205860.3

p.M1I

c.3G>A

1 paper

NM_205860.3

p.M1I

c.3G>C

1 paper

NM_205860.3

p.M1I

c.3G>T

1 paper

NM_205860.3

p.S2A

c.4T>G

1 paper

NM_205860.3

p.S2insFs

c.6dupT

1 paper

NM_205860.3

p.T7T

c.21T>G

1 paper

NM_205860.3

p.E12K

c.34G>A