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.H40R

c.119A>G

Surrounding Variants

1 paper

NM_003849.4

p.I38delFs

c.112_113delAT

1 paper

NM_003849.4

p.I38fs

c.112_113fs

3 papers

NM_003849.4

p.G37A

c.110G>C

1 paper

NM_003849.4

p.A45T

c.133G>A

6 papers

NM_003849.4

p.S46F

c.137C>T

1 paper

NM_003849.4

p.R47Q

c.140G>A

1 paper

NM_003849.4

p.L33V

c.97C>G

1 paper

NM_003849.4

p.L50F

c.148C>T

1 paper

NM_003849.4

p.L33Splc

c.98-9A>G

1 paper

NM_003849.4

p.Y51F

c.152A>T

1 paper

NM_003849.4

p.Y51fs

c.151_152fs

1 paper

NM_003849.4

p.Y51delFs

c.152_153delAT