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

5 papers

NM_003849.4

p.K81R

c.242A>G

Surrounding Variants

1 paper

NM_003849.4

p.K81T

c.242A>C

1 paper

NM_003849.4

p.Y78_K81del0

c.234_242del9

1 paper

NM_003849.4

p.T80P

c.238A>C

1 paper

NM_003849.4

p.V83F

c.247G>T

1 paper

NM_003849.4

p.V83L

c.247G>C

1 paper

NM_003849.4

p.V83I

c.247G>A

1 paper

NM_003849.4

p.G79_L82delFs

c.236_246del11

7 papers

NM_003849.4

p.G79D

c.236G>A

1 paper

NM_003849.4

p.V83fs

c.247_248fs

1 paper

NM_003849.4

p.G79S

c.235G>A

5 papers

NM_003849.4

p.G85A

c.254G>C

1 paper

NM_003849.4

p.G85E

c.254G>A