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

9 papers

NM_003849.4

p.M14L

c.40A>T

Surrounding Variants

2 papers

NM_003849.4

p.M14V

c.40A>G

7 papers

NM_003849.4

p.M14L

c.40A>C

7 papers

NM_003849.4

p.M14T

c.41T>C

1 paper

NM_003849.4

p.D10Fs

c.29delinsATAAAFs

1 paper

NM_003849.4

p.A8insFs

c.22_23insC

1 paper

NM_003849.4

p.L21F

c.61C>T

1 paper

NM_003849.4

p.A22_A23insC

c.64_68ins3

1 paper

NM_003849.4

p.M1I

c.3G>A

1 paper

NM_003849.4

p.M1R

c.2T>G

1 paper

NM_003849.4

p.L27Q

c.80T>A

1 paper

NM_003849.4

p.S28delFs

c.83delG

1 paper

NM_003849.4

p.L33V

c.97C>G