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.F16insFs

c.46_47insC

Surrounding Variants

1 paper

NM_004453.4

p.F16C

c.47T>G

1 paper

NM_004453.4

p.C15_F16insFs

c.45_46insC

1 paper

NM_004453.4

p.H17insFs

c.50dupA

10 papers

NM_004453.4

p.H17insFs

c.51dupT

1 paper

NM_004453.4

p.H17_A18insFs

c.51_52insC

3 papers

NM_004453.4

p.A18fs

c.52_53fs

3 papers

NM_004453.4

p.A18insFs

c.52_53insT

5 papers

NM_004453.4

p.A18fs

c.52_53fs

1 paper

NM_004453.4

p.Y13*

c.39T>A

1 paper

NM_004453.4

p.A12V

c.35C>T

2 papers

NM_004453.4

p.A12delFs

c.36delA

1 paper

NM_004453.4

p.A12Splc

c.35-2A>C