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.T268fs

c.802_803fs

Surrounding Variants

1 paper

NM_033334.4

p.G267insFs

c.800dupG

1 paper

NM_033334.4

p.A243T

c.727G>A

1 paper

NM_033334.4

p.L239Q

c.716T>A

1 paper

NM_033334.4

p.G234ins7

c.700_701ins21

3 papers

NM_033334.4

p.P227_L229del3

c.679_686del9

1 paper

NM_033334.4

p.H222Y

c.664C>T

11 papers

NM_033334.4

p.P192L

c.575C>T

1 paper

NM_033334.4

p.S185*

c.554C>A

1 paper

NM_033334.4

p.G181E

c.542G>A

1 paper

NM_033334.4

p.Q280*

c.838C>T

1 paper

NM_033334.4

p.N171H

c.511A>C

1 paper

NM_033334.4

p.A285S

c.853G>T