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.K487fs

c.1459_1460fs

Surrounding Variants

1 paper

NM_004453.4

p.K487delFs

c.1459delA

2 papers

NM_004453.4

p.L486insFs

c.1456_1457insT

1 paper

NM_004453.4

p.L486fs

c.1456_1457fs

7 papers

NM_004453.4

p.T485S

c.1454C>G

5 papers

NM_004453.4

p.T485S

c.1453A>T

1 paper

NM_004453.4

p.G490R

c.1468G>C

7 papers

NM_004453.4

p.W484R

c.1450T>A

11 papers

NM_004453.4

p.W484R

c.1450T>C

2 papers

NM_004453.4

p.P483Q

c.1448C>A

30 papers

NM_004453.4

p.P483L

c.1448C>T

2 papers

NM_004453.4

p.G490Splc

c.1468+2T>G

3 papers

NM_004453.4

p.E482V

c.1445A>T