Varaico: Literature-Extracted Genetic Variants

NRF1

160 papers

RefSeq Summary

This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required ...

Pfam Domains

Nrf1_DNA-bindaa 75–283UCSCNLS-binding and DNA-binding and dimerisation domains of Nrf1

Gene Aliases

HGNC Name

nuclear respiratory factor 1

HGNC Alias Symbols

EWG; ALPHA-PAL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005011.5

p.A203P

c.607G>C

Surrounding Variants

1 paper

NM_005011.5

p.Q202_A203Splc

c.607-1G>A

2 papers

NM_005011.5

p.R206W

c.616C>T

1 paper

NM_005011.5

p.G218delFs

c.652delG

1 paper

NM_005011.5

p.R219Q

c.656G>A

1 paper

NM_005011.5

p.N242N

c.726T>C

1 paper

NM_005011.5

p.N242K

c.726T>G

3 papers

NM_005011.5

p.R244W

c.730C>T

1 paper

NM_005011.5

p.E250Q

c.748G>C

1 paper

NM_005011.5

p.V256I

c.766G>A

1 paper

NM_005011.5

p.T259P

c.775A>C

2 papers

NM_005011.5

p.T259A

c.775A>G

1 paper

NM_005011.5

p.V266V

c.798T>A