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

1–12 of 187 variants

16 papers

NM_003849.4

p.A209E

c.626C>A

9 papers

NM_003849.4

p.M14L

c.40A>T

9 papers

NM_003849.4

p.G184S

c.550G>A

8 papers

NM_003849.4

p.P170R

c.509C>G

7 papers

NM_003849.4

p.M14L

c.40A>C

7 papers

NM_003849.4

p.M14T

c.41T>C

7 papers

NM_003849.4

p.G79D

c.236G>A

7 papers

NM_003849.4

p.E263K

c.787G>A

7 papers

NM_003849.4

p.E263G

c.788A>G

7 papers

NM_003849.4

p.S275_G276Splc

c.826-2A>G

6 papers

NM_003849.4

p.L33Splc

c.97+3G>C

6 papers

NM_003849.4

p.S46F

c.137C>T