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

3 papers

NM_003849.4

p.E250G

c.749A>G

Surrounding Variants

1 paper

NM_003849.4

p.G251R

c.751G>C

5 papers

NM_003849.4

p.G251S

c.751G>A

1 paper

NM_003849.4

p.F236_D246del11

c.706_737del33

1 paper

NM_003849.4

p.L254L

c.760T>C

1 paper

NM_003849.4

p.I255T

c.764T>C

1 paper

NM_003849.4

p.I255M

c.765T>G

1 paper

NM_003849.4

p.F243_L244insFs

c.729_730insT

1 paper

NM_003849.4

p.F243_L244insFs

c.729_730insTT

1 paper

NM_003849.4

p.G256insFs

c.766_767ins4

1 paper

NM_003849.4

p.F243Y

c.728T>A

1 paper

NM_003849.4

p.I258T

c.773T>C

2 papers

NM_003849.4

p.G259D

c.776G>A