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

6 papers

NM_000126.4

p.I329V

c.985A>G

Surrounding Variants

2 papers

NM_000126.4

p.I329L

c.985A>T

2 papers

NM_000126.4

p.I329L

c.985A>C

1 paper

NM_000126.4

p.I329M

c.987A>G

1 paper

NM_000126.4

p.T327I

c.980C>T

3 papers

NM_000126.4

p.K333R

c.998A>G

2 papers

NM_000126.4

p.V322L

c.964G>T

1 paper

NM_000126.4

p.I315V

c.943A>G

1 paper

NM_000126.4

p.N300fs

c.898_899fs