Varaico: Literature-Extracted Genetic Variants

ETFDH

453 papers

RefSeq Summary

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respira...

Pfam Domains

NAD_binding_8aa 12–63UCSCNAD(P)-binding Rossmann-like domain

Thi4aa 58–121UCSCThi4 family

ETFQO_UQ-bdaa 271–366UCSCETF-QO, ubiquinone-binding

Fer4_ETF_QOaa 512–615UCSCElectron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S

Gene Aliases

HGNC Name

electron transfer flavoprotein dehydrogenase

HGNC Alias Symbol

ETFQO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_004453.4

p.Q269L

c.806A>T

Surrounding Variants

9 papers

NM_004453.4

p.Q269H

c.807A>C

6 papers

NM_004453.4

p.Q269H

c.807A>T

1 paper

NM_004453.4

p.Q269E

c.805C>G

2 papers

NM_004453.4

p.Y271C

c.812A>G

1 paper

NM_004453.4

p.E267K

c.799G>A

12 papers

NM_004453.4

p.G272R

c.814G>A

NM_001281738.1

p.G211R

c.631G>A

8 papers

NM_004453.4

p.G272R

c.814G>C

NM_001281738.1

p.G211R

c.631G>C

1 paper

NM_004453.4

p.G272E

c.815G>A

1 paper

NM_004453.4

p.I273T

c.818T>C

1 paper

NM_004453.4

p.N265_C266del2

c.793_797del6

4 papers

NM_004453.4

p.G274*

c.820G>T

3 papers

NM_004453.4

p.G274E

c.821G>A