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

5 papers

NM_000126.4

p.I276L

c.826A>C

Surrounding Variants

1 paper

NM_000126.4

p.I276N

c.827T>A

3 papers

NM_000126.4

p.Q285L

c.854A>T

1 paper

NM_000126.4

p.Q285R

c.854A>G

1 paper

NM_000126.4

p.I284_Q285delFs

c.852_855del4

2 papers

NM_000126.4

p.D292_S293delFs

c.875_878del4

1 paper

NM_000126.4

p.N300fs

c.898_899fs

1 paper

NM_000126.4

p.I315V

c.943A>G