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

1–12 of 77 variants

3 papers

NM_005011.5

p.R244W

c.730C>T

2 papers

NM_005011.5

p.H18L

c.53A>T

2 papers

NM_005011.5

p.D50D

c.150C>T

2 papers

NM_005011.5

p.A63A

c.189A>G

2 papers

NM_005011.5

p.A203P

c.607G>C

2 papers

NM_005011.5

p.R206W

c.616C>T

2 papers

NM_005011.5

p.T259A

c.775A>G

1 paper

NM_005011.5

p.M1T

c.2T>C

1 paper

NM_005011.5

p.E3*

c.7G>T

1 paper

NM_005011.5

p.G5*

c.13G>T

1 paper

NM_005011.5

p.T9A

c.25A>G

1 paper

NM_005011.5

p.H11P

c.32A>C