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.G404insFs

c.1211_1212insTA

Surrounding Variants

1 paper

NM_033334.4

p.L405L

c.1213C>T

1 paper

NM_033334.4

p.L414L

c.1240T>C

1 paper

NM_033334.4

p.R417*

c.1249C>T

1 paper

NM_033334.4

p.P434L

c.1301C>T

3 papers

NM_033334.4

p.R436C

c.1306C>T

1 paper

NM_033334.4

p.G452Splc

c.1354+141A>G

1 paper

NM_033334.4

p.M392R

c.1175T>G

1 paper

NM_033334.4

p.E387G

c.1160A>G

1 paper

NM_033334.4

p.E387K

c.1159G>A

1 paper

NM_033334.4

p.P458S

c.1372C>T

1 paper

NM_033334.4

p.H471Y

c.1411C>T

1 paper

NM_033334.4

p.K479Q

c.1435A>C