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

1 paper

NM_000126.4

p.V257A

c.770T>C

Surrounding Variants

1 paper

NM_000126.4

p.V257G

c.770T>G

4 papers

NM_000126.4

p.G255V

c.764G>T

2 papers

NM_000126.4

p.Q262R

c.785A>G

1 paper

NM_000126.4

p.Q262Q

c.786A>G

1 paper

NM_000126.4

p.A251P

c.751G>C

1 paper

NM_000126.4

p.A251T

c.751G>A

1 paper

NM_000126.4

p.R249H

c.746G>A

2 papers

NM_000126.4

p.R249C

c.745C>T

1 paper

NM_000126.4

p.T266A

c.796A>G

13 papers

NM_000126.4

p.T266M

c.797C>T

1 paper

NM_000126.4

p.G267R

c.799G>C

1 paper

NM_000126.4

p.G267R

c.799G>A