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

3 papers

NM_004453.4

p.R452delFs

c.1355delG

Surrounding Variants

2 papers

NM_004453.4

p.R452G

c.1354A>G

1 paper

NM_004453.4

p.R452fs

c.1354_1355fs

3 papers

NM_004453.4

p.R452K

c.1355G>A

3 papers

NM_004453.4

p.V451I

c.1351G>A

9 papers

NM_004453.4

p.V451L

c.1351G>C

2 papers

NM_004453.4

p.V451F

c.1351G>T

1 paper

NM_004453.4

p.Y449D

c.1345T>G

1 paper

NM_004453.4

p.L448_Y449insFs

c.1344_1345insC

1 paper

NM_004453.4

p.Y449_N453del5

c.1345_1358del15

2 papers

NM_004453.4

p.Y449_R452del4

c.1345_1355del12

6 papers

NM_004453.4

p.P456T

c.1366C>A

8 papers

NM_004453.4

p.P456S

c.1366C>T