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.T259A

c.775A>G

Surrounding Variants

1 paper

NM_005011.5

p.T259P

c.775A>C

1 paper

NM_005011.5

p.V256I

c.766G>A

1 paper

NM_005011.5

p.V266V

c.798T>A

1 paper

NM_005011.5

p.Q272K

c.814C>A

1 paper

NM_005011.5

p.Q272L

c.815A>T

1 paper

NM_005011.5

p.R275W

c.823C>T

1 paper

NM_005011.5

p.T287A

c.859A>G

1 paper

NM_005011.5

p.T292S

c.874A>T

1 paper

NM_005011.5

p.V322insFs

c.965_966insC

1 paper

NM_005011.5

p.T327S

c.979A>T

1 paper

NM_005011.5

p.E250Q

c.748G>C

3 papers

NM_005011.5

p.R244W

c.730C>T