Varaico: Literature-Extracted Genetic Variants

NR2E1

83 papers

RefSeq Summary

The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggres...

Pfam Domains

zf-C4aa 14–85UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 171–367UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group E member 1

HGNC Alias Symbol

XTLL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 37 variants

2 papers

NM_003269.5

p.R274G

c.820C>G

2 papers

NM_003269.5

p.R309G

c.925C>G

2 papers

NM_003269.5

p.R309Q

c.926G>A

1 paper

NM_003269.5

p.M1R

c.2T>G

1 paper

NM_001286102.1

p.G46S

c.136G>A

1 paper

NM_003269.5

p.G20V

c.59G>T

1 paper

NM_003269.5

p.R22C

c.64C>T

1 paper

NM_003269.5

p.H27Q

c.81C>A

1 paper

NM_003269.5

p.S37*

c.110C>A

1 paper

NM_003269.5

p.R46K

c.137G>A

1 paper

NM_003269.5

p.N47S

c.140A>G

1 paper

NM_003269.5

p.D63N

c.187G>A