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.A321P

c.961G>C

Surrounding Variants

1 paper

NM_003849.4

p.Q319H

c.957G>T

1 paper

NM_003849.4

p.Q319H

c.957G>C

1 paper

NM_003849.4

p.L318H

c.953T>A

1 paper

NM_003849.4

p.V324M

c.970G>A

1 paper

NM_003849.4

p.S326G

c.976A>G

2 papers

NM_003849.4

p.M327fs

c.979_980fs

3 papers

NM_003849.4

p.M327insFs

c.980dupT

1 paper

NM_003849.4

p.G333A

c.998G>C

3 papers

NM_003849.4

p.G306*

c.916G>T

1 paper

NM_003849.4

p.I336I

c.1008C>T

1 paper

NM_003849.4

p.Y337Y

c.1011C>T

1 paper

NM_003849.4

p.K338K

c.1014G>A