Varaico: Literature-Extracted Genetic Variants

ETFA

234 papers

RefSeq Summary

ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron trans...

Pfam Domains

ETFaa 22–195UCSCElectron transfer flavoprotein domain

ETF_alphaaa 211–291UCSCElectron transfer flavoprotein FAD-binding domain

Gene Aliases

HGNC Name

electron transfer flavoprotein subunit alpha

HGNC Alias Symbols

GA2; EMA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000126.4

p.A14T

c.40G>A

Surrounding Variants

1 paper

NM_000126.4

p.A13_A14Splc

c.40-5T>A

1 paper

NM_000126.4

p.L16insFs

c.46_47insC

7 papers

NM_000126.4

p.R18*

c.52C>T

1 paper

NM_000126.4

p.Q20insFs

c.59_60insT

1 paper

NM_000126.4

p.T22N

c.65C>A

1 paper

NM_000126.4

p.V24I

c.70G>A

2 papers

NM_000126.4

p.I25delFs

c.73delT

1 paper

NM_000126.4

p.A13_A14Splc

c.40-43G>T

1 paper

NM_000126.4

p.A29T

c.85G>A

1 paper

NM_000126.4

p.T40T

c.120C>A

1 paper

NM_000126.4

p.T42S

c.124A>T

1 paper

NM_000126.4

p.R46C

c.136C>T