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.K53T

c.158A>C

Surrounding Variants

9 papers

NM_004453.4

p.K53R

c.158A>G

1 paper

NM_004453.4

p.K53M

c.158A>T

1 paper

NM_004453.4

p.K53Q

c.157A>C

11 papers

NM_004453.4

p.R51Q

c.152G>A

4 papers

NM_004453.4

p.R51_D52insT

c.151_155ins3

1 paper

NM_004453.4

p.R51G

c.151C>G

1 paper

NM_004453.4

p.P50P

c.150C>T

1 paper

NM_004453.4

p.P50H

c.149C>A

1 paper

NM_004453.4

p.E58insFs

c.172dupG

1 paper

NM_004453.4

p.Y49C

c.146A>G

1 paper

NM_004453.4

p.W57*

c.170G>A

4 papers

NM_004453.4

p.W57S

c.170G>C