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.F260S

c.779T>C

Surrounding Variants

1 paper

NM_004453.4

p.D261G

c.782A>G

1 paper

NM_004453.4

p.K259fs

c.775_776fs

1 paper

NM_004453.4

p.K259*

c.775A>T

2 papers

NM_004453.4

p.L262F

c.786G>C

3 papers

NM_004453.4

p.L262F

c.786G>T

66 papers

NM_004453.4

p.Y257C

c.770A>G

2 papers

NM_004453.4

p.Y257H

c.769T>C

1 paper

NM_004453.4

p.N265_C266del2

c.793_797del6

1 paper

NM_004453.4

p.E267K

c.799G>A

1 paper

NM_004453.4

p.Q269E

c.805C>G

6 papers

NM_004453.4

p.Q269L

c.806A>T

9 papers

NM_004453.4

p.Q269H

c.807A>C