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

1 paper

NM_005011.5

p.D65V

c.194A>T

Surrounding Variants

1 paper

NM_005011.5

p.D65D

c.195T>C

2 papers

NM_005011.5

p.A63A

c.189A>G

1 paper

NM_005011.5

p.L71P

c.212T>C

1 paper

NM_005011.5

p.A72V

c.215C>T

1 paper

NM_005011.5

p.A73G

c.218C>G

2 papers

NM_005011.5

p.D50D

c.150C>T

1 paper

NM_005011.5

p.S44L

c.131C>T

1 paper

NM_005011.5

p.T33T

c.99C>A

1 paper

NM_005011.5

p.Y32*

c.96C>A

1 paper

NM_005011.5

p.A30V

c.89C>T

1 paper

NM_005011.5

p.V29L

c.85G>T

2 papers

NM_005011.5

p.H18L

c.53A>T