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

2 papers

NM_004453.4

p.M166I

c.498G>A

Surrounding Variants

1 paper

NM_004453.4

p.M166I

c.498G>C

1 paper

NM_004453.4

p.M166I

c.498G>T

1 paper

NM_004453.4

p.N168H

c.502A>C

5 papers

NM_004453.4

p.N168S

c.503A>G

1 paper

NM_004453.4

p.H169Y

c.505C>T

8 papers

NM_004453.4

p.G170C

c.508G>T

1 paper

NM_004453.4

p.G170A

c.509G>C

5 papers

NM_004453.4

p.N171D

c.511A>G

7 papers

NM_004453.4

p.G163Splc

c.488-9T>C

2 papers

NM_004453.4

p.I173S

c.518T>G

2 papers

NM_004453.4

p.I173M

c.519T>G

2 papers

NM_004453.4

p.V174I

c.520G>A