Varaico: Literature-Extracted Genetic Variants

NDUFV1

238 papers

RefSeq Summary

The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (compl...

Pfam Domains

Complex1_51Kaa 80–252UCSCNuo51 FMN-binding domain

SLBB_2aa 274–363UCSCSLBB domain

NADH_4Fe-4Saa 365–449UCSCNADH-ubiquinone oxidoreductase-F iron-sulfur binding region

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase core subunit V1

HGNC Alias Symbol

CI-51K

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007103.4

p.A151T

c.451G>A

Surrounding Variants

1 paper

NM_007103.4

p.G150D

c.449G>A

1 paper

NM_007103.4

p.R152C

c.454C>T

2 papers

NM_007103.4

p.A153T

c.457G>A

2 papers

NM_007103.4

p.A154T

c.460G>A

1 paper

NM_007103.4

p.A148T

c.442G>A

2 papers

NM_007103.4

p.R147W

c.439C>T

1 paper

NM_007103.4

p.R159*

c.475C>T

1 paper

NM_007103.4

p.C142W

c.426C>G

1 paper

NM_001166102.2

p.R150Q

c.449G>A

1 paper

NM_007103.4

p.E140insFs

c.419_420ins14

2 papers

NM_007103.4

p.E140K

c.418G>A

1 paper

NM_007103.4

p.E140fs

c.418_419fs