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.A106T

c.316G>A

Surrounding Variants

1 paper

NM_004453.4

p.K105E

c.313A>G

1 paper

NM_004453.4

p.Q108R

c.323A>G

1 paper

NM_004453.4

p.Q108Q

c.324G>A

1 paper

NM_004453.4

p.I109V

c.325A>G

2 papers

NM_004453.4

p.I109T

c.326T>C

2 papers

NM_004453.4

p.C101*

c.303T>A

1 paper

NM_004453.4

p.V100E

c.299T>A

5 papers

NM_004453.4

p.H112Y

c.334C>T

1 paper

NM_004453.4

p.V100delFs

c.298delG

1 paper

NM_004453.4

p.R99P

c.296G>C

1 paper

NM_004453.4

p.S115delFs

c.343_344delTC

3 papers

NM_004453.4

p.R99G

c.295C>G