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

Selected Variant

2 papers

NM_205860.3

p.G398A

c.1193G>C

Surrounding Variants

1 paper

NM_205860.3

p.F404insFs

c.1211_1212insTA

1 paper

NM_205860.3

p.D389A

c.1166A>C

1 paper

NM_205860.3

p.D389Y

c.1165G>T

1 paper

NM_205860.3

p.Q410K

c.1228C>A

1 paper

NM_205860.3

p.E384Q

c.1150G>C

1 paper

NM_205860.3

p.Q410_V411Splc

c.1230+14C>T

1 paper

NM_205860.3

p.K370_V371Splc

c.1111-1G>A

1 paper

NM_205860.3

p.Y413delFs

c.1238delA

2 papers

NM_205860.3

p.G421A

c.1262G>C

1 paper

NM_205860.3

p.N426H

c.1276A>C

1 paper

NM_205860.3

p.N426I

c.1277A>T

1 paper

NM_205860.3

p.M428del1

c.1282_1284delATG