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.Q451*

c.1351C>T

Surrounding Variants

1 paper

NM_007103.4

p.R449W

c.1345C>T

1 paper

NM_007103.4

p.L446L

c.1338C>T

1 paper

NM_007103.4

p.R460insFs

c.1378dupC

1 paper

NM_007103.4

p.F442L

c.1326T>A

1 paper

NM_007103.4

p.F442L

c.1326T>G

1 paper

NM_007103.4

p.F442L

c.1324T>C

1 paper

NM_007103.4

p.I439L

c.1315A>C

1 paper

NM_007103.4

p.L438M

c.1312C>A

1 paper

NM_001166102.2

p.A423V

c.1268C>T

13 papers

NM_007103.4

p.A432P

c.1294G>C

1 paper

NM_007103.4

p.I424S

c.1271T>G

40 papers

NM_007103.4

p.T423M

c.1268C>T