Varaico: Literature-Extracted Genetic Variants

NR6A1

76 papers

RefSeq Summary

This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development...

Pfam Domains

zf-C4aa 58–127UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 283–457UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 6 group A member 1

HGNC Previous Symbol

GCNF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033334.4

p.E56K

c.166G>A

Surrounding Variants

1 paper

NM_033334.4

p.I62F

c.184A>T

3 papers

NM_033334.4

p.I48fs

c.142_143fs

1 paper

NM_033334.4

p.R66C

c.196C>T

1 paper

NM_033334.4

p.R66H

c.197G>A

1 paper

NM_033334.4

p.A67_T68insCC

c.199_203ins6

1 paper

NM_033334.4

p.C77Y

c.230G>A

3 papers

NM_033334.4

p.S76del1

c.226_227delGGA

1 paper

NM_033334.4

p.E78V

c.233A>T

1 paper

NM_033334.4

p.E78G

c.233A>G

1 paper

NM_033334.4

p.G79D

c.236G>A

1 paper

NM_033334.4

p.G82E

c.245G>A

1 paper

NM_033334.4

p.K91R

c.272A>G