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

1 paper

NM_205860.3

p.A431T

c.1291G>A

Surrounding Variants

1 paper

NM_205860.3

p.H430_L434del0

c.1289_1300del12

1 paper

NM_205860.3

p.H430_L434del5

c.1288_1301del15

1 paper

NM_205860.3

p.M428del1

c.1282_1284delATG

1 paper

NM_205860.3

p.N426I

c.1277A>T

1 paper

NM_205860.3

p.N426H

c.1276A>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.Y413delFs

c.1238delA

1 paper

NM_205860.3

p.L451L

c.1353G>A

1 paper

NM_205860.3

p.K452E

c.1354A>G

1 paper

NM_205860.3

p.Q410_V411Splc

c.1230+14C>T

1 paper

NM_205860.3

p.Q410K

c.1228C>A