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

2 papers

NM_007103.4

p.G380R

c.1138G>C

Surrounding Variants

3 papers

NM_007103.4

p.S378R

c.1134C>A

3 papers

NM_007103.4

p.S378R

c.1134C>G

3 papers

NM_007103.4

p.S378R

c.1132A>C

9 papers

NM_007103.4

p.E377K

c.1129G>A

1 paper

NM_007103.4

p.C385C

c.1155C>T

1 paper

NM_007103.4

p.R386S

c.1156C>A

32 papers

NM_007103.4

p.R386C

c.1156C>T

1 paper

NM_007103.4

p.F373L

c.1119C>A

1 paper

NM_007103.4

p.F373L

c.1119C>G

20 papers

NM_007103.4

p.R386H

c.1157G>A

6 papers

NM_007103.4

p.F373S

c.1118T>C

1 paper

NM_007103.4

p.F373L

c.1117T>C