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

1–12 of 169 variants

14 papers

NM_000126.4

p.T171I

c.512C>T

13 papers

NM_000126.4

p.T266M

c.797C>T

7 papers

NM_000126.4

p.R18*

c.52C>T

6 papers

NM_000126.4

p.L127H

c.380T>A

6 papers

NM_000126.4

p.I329V

c.985A>G

5 papers

NM_000126.4

p.A4_G8insFs

c.12_22dup11

5 papers

NM_000126.4

p.R122K

c.365G>A

5 papers

NM_000126.4

p.R223*

c.667C>T

5 papers

NM_000126.4

p.I276L

c.826A>C

4 papers

NM_000126.4

p.V157G

c.470T>G

4 papers

NM_000126.4

p.V165A

c.494T>C

4 papers

NM_000126.4

p.G255V

c.764G>T