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.T214M

c.641C>T

Surrounding Variants

1 paper

NM_003849.4

p.Q212delFs

c.635_636delTT

4 papers

NM_003849.4

p.Q212R

c.635A>G

1 paper

NM_003849.4

p.A209V

c.626C>T

16 papers

NM_003849.4

p.A209E

c.626C>A

1 paper

NM_003849.4

p.A209P

c.625G>C

3 papers

NM_003849.4

p.Y207H

c.619T>C

1 paper

NM_003849.4

p.V224I

c.670G>A

1 paper

NM_003849.4

p.R201S

c.603A>T

1 paper

NM_003849.4

p.R201S

c.603A>C

1 paper

NM_003849.4

p.R201T

c.602G>C

4 papers

NM_003849.4

p.R201G

c.601A>G

5 papers

NM_003849.4

p.S200F

c.599C>T