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.R295K

c.884G>A

Surrounding Variants

1 paper

NM_003849.4

p.R295G

c.883A>G

1 paper

NM_003849.4

p.G294R

c.880G>C

1 paper

NM_003849.4

p.G294R

c.880G>A

3 papers

NM_003849.4

p.A291P

c.871G>C

1 paper

NM_003849.4

p.A300A

c.900C>T

1 paper

NM_003849.4

p.G288D

c.863G>A

1 paper

NM_003849.4

p.A287T

c.859G>A

1 paper

NM_003849.4

p.I286T

c.857T>C

1 paper

NM_003849.4

p.S284_F285delFs

c.852_855del4

1 paper

NM_003849.4

p.S284delFs

c.851delG

3 papers

NM_003849.4

p.G306*

c.916G>T

1 paper

NM_003849.4

p.V282I

c.844G>A