Varaico: Literature-Extracted Genetic Variants

Gene:SUCLA2
Variant:p.S124P

SUCLA2

188 papers

RefSeq Summary

Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by th...

Pfam Domains

ATP-grasp_2aa 54–262UCSCATP-grasp domain
Ligase_CoAaa 321–441UCSCCoA-ligase

Gene Aliases

HGNC Name

succinate-CoA ligase ADP-forming subunit beta

HGNC Previous Symbol

LINC00444

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003850.3
p.S124P
c.370T>C
Surrounding Variants
1 paper
NM_003850.3
p.P125fs
c.373_374fs
1 paper
NM_003850.3
p.G137R
c.409G>C
1 paper
NM_003850.3
p.G137R
c.409G>A
1 paper
NM_003850.3
p.L140_F141del0
c.418_423del6
1 paper
NM_003850.3
p.T142I
c.425C>T
1 paper
NM_003850.3
p.T142T
c.426C>A
1 paper
NM_003850.3
p.T145K
c.434C>A
1 paper
NM_003850.3
p.K148M
c.443A>T
1 paper
NM_003850.3
p.R150S
c.450A>T
1 paper
NM_003850.3
p.I151insFs
c.451_452insC
1 paper
NM_003850.3
p.C152R
c.454T>C
1 paper
NM_003850.3
p.E159G
c.476A>G
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