Varaico: Literature-Extracted Genetic Variants

Gene:SUCLA2
Variant:p.P230S

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
1 paper
NM_003850.3
p.P230S
c.688C>T
Surrounding Variants
1 paper
NM_003850.3
p.G227A
c.680G>C
1 paper
NM_003850.3
p.Q224del1
c.670_671delCTG
2 papers
NM_003850.3
p.Q221_L222Splc
c.664-1G>A
1 paper
NM_003850.3
p.L243H
c.728T>A
2 papers
NM_003850.3
p.L243_Y244insFs
c.729_730insTT
2 papers
NM_003850.3
p.Y250*
c.750C>G
3 papers
NM_003850.3
p.Y250*
c.750C>A
1 paper
NM_003850.3
p.D251H
c.751G>C
12 papers
NM_003850.3
p.D251N
c.751G>A
1 paper
NM_003850.3
p.A252V
c.755C>T
1 paper
NM_003850.3
p.I255T
c.764T>C
1 paper
NM_003850.3
p.E256insFs
c.766_767ins4
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