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.S322F

c.965C>T

Surrounding Variants

3 papers

NM_033334.4

p.S322_L327delFs

c.965_980del16

3 papers

NM_033334.4

p.W301*

c.903G>A

3 papers

NM_033334.4

p.W301*

c.902G>A

1 paper

NM_033334.4

p.S352L

c.1055C>T

1 paper

NM_033334.4

p.D292N

c.874G>A

1 paper

NM_033334.4

p.D355N

c.1063G>A

1 paper

NM_033334.4

p.C288S

c.863G>C

1 paper

NM_033334.4

p.C288S

c.862T>A

1 paper

NM_033334.4

p.A285S

c.853G>T

1 paper

NM_033334.4

p.Q280*

c.838C>T

1 paper

NM_033334.4

p.T268fs

c.802_803fs

1 paper

NM_033334.4

p.G267insFs

c.800dupG