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

40 papers

NM_007103.4

p.T423M

c.1268C>T

Surrounding Variants

1 paper

NM_007103.4

p.I424S

c.1271T>G

1 paper

NM_007103.4

p.I419T

c.1256T>C

13 papers

NM_007103.4

p.A432P

c.1294G>C

1 paper

NM_001166102.2

p.A423V

c.1268C>T

2 papers

NM_007103.4

p.L412P

c.1235T>C

1 paper

NM_007103.4

p.A404T

c.1210G>A

2 papers

NM_007103.4

p.D403G

c.1208A>G

2 papers

NM_007103.4

p.D403fs

c.1207_1208fs

1 paper

NM_007103.4

p.D403fs

c.1207_1208fs

4 papers

NM_007103.4

p.D403insFs

c.1207dupG

1 paper

NM_007103.4

p.G388D

c.1163G>A

1 paper

NM_007103.4

p.L438M

c.1312C>A