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

60 papers

NM_004453.4

p.L28L

c.84A>T

Surrounding Variants

1 paper

NM_004453.4

p.P27A

c.79C>G

7 papers

NM_004453.4

p.P27S

c.79C>T

1 paper

NM_004453.4

p.T31fs

c.91_92fs

1 paper

NM_004453.4

p.T31A

c.91A>G

7 papers

NM_004453.4

p.T31I

c.92C>T

1 paper

NM_004453.4

p.T31Fs

c.92delinsTAFs

1 paper

NM_004453.4

p.Y25*

c.75T>A

1 paper

NM_004453.4

p.Y25*

c.75T>G

1 paper

NM_004453.4

p.Y25insFs

c.74dupA

1 paper

NM_004453.4

p.N24T

c.71A>C

2 papers

NM_004453.4

p.W33*

c.98G>A

1 paper

NM_004453.4

p.K23K

c.69A>G