Varaico: Literature-Extracted Genetic Variants

SUCLG1

154 papers

RefSeq Summary

This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to ...

Pfam Domains

CoA_bindingaa 53–146UCSCCoA binding domain

Ligase_CoAaa 199–324UCSCCoA-ligase

Gene Aliases

HGNC Name

succinate-CoA ligase GDP/ADP-forming subunit alpha

HGNC Previous Names

succinate-CoA ligase, GDP-forming, alpha subunit; succinate-CoA ligase, alpha subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003849.4

p.R161C

c.481C>T

Surrounding Variants

1 paper

NM_003849.4

p.R161H

c.482G>A

1 paper

NM_003849.4

p.L160_R161insAGA

c.478_482ins9

1 paper

NM_003849.4

p.K158R

c.473A>G

2 papers

NM_003849.4

p.K156M

c.467A>T

1 paper

NM_003849.4

p.R154Q

c.461G>A

1 paper

NM_003849.4

p.G169E

c.506G>A

1 paper

NM_003849.4

p.P170L

c.509C>T

8 papers

NM_003849.4

p.P170R

c.509C>G

1 paper

NM_003849.4

p.D151A

c.452A>C

1 paper

NM_003849.4

p.D151insFs

c.451_452insC

1 paper

NM_003849.4

p.N171H

c.511A>C

5 papers

NM_003849.4

p.N171S

c.512A>G