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

1 paper

NM_004453.4

p.G247D

c.740G>A

Surrounding Variants

1 paper

NM_004453.4

p.G247A

c.740G>C

4 papers

NM_004453.4

p.G247V

c.740G>T

1 paper

NM_004453.4

p.G247R

c.739G>C

11 papers

NM_004453.4

p.E246K

c.736G>A

1 paper

NM_004453.4

p.H249Y

c.745C>T

2 papers

NM_004453.4

p.G250A

c.749G>C

4 papers

NM_004453.4

p.F244S

c.731T>C

1 paper

NM_004453.4

p.F244L

c.730T>C

4 papers

NM_004453.4

p.I243T

c.728T>C

1 paper

NM_004453.4

p.I243_F244insFs

c.729_730insTT

1 paper

NM_004453.4

p.T242I

c.725C>T

1 paper

NM_001281737.2

p.K193T

c.578A>C