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.L550fs

c.1648_1649fs

Surrounding Variants

1 paper

NM_004453.4

p.L550fs

c.1648_1649fs

2 papers

NM_004453.4

p.L550P

c.1649T>C

2 papers

NM_004453.4

p.L550R

c.1649T>G

2 papers

NM_004453.4

p.L550delFs

c.1648_1649delCT

7 papers

NM_004453.4

p.Y553H

c.1657T>C

2 papers

NM_004453.4

p.Y553C

c.1658A>G

1 paper

NM_004453.4

p.G555E

c.1664G>A

3 papers

NM_004453.4

p.P556R

c.1667C>G

2 papers

NM_004453.4

p.E557K

c.1669G>A

1 paper

NM_004453.4

p.S543insFs

c.1627dupA

1 paper

NM_004453.4

p.D541delFs

c.1623delT

9 papers

NM_004453.4

p.R559*

c.1675C>T