Varaico: Literature-Extracted Genetic Variants

Gene:SUCLA2
Variant:p.I121fs

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.I121fs
c.361_362fs
Surrounding Variants
1 paper
NM_003850.3
p.I121delFs
c.362_363delTA
3 papers
NM_003850.3
p.S124P
c.370T>C
12 papers
NM_003850.3
p.G118R
c.352G>C
13 papers
NM_003850.3
p.G118R
c.352G>A
3 papers
NM_003850.3
p.S124Splc
c.371+9C>T
1 paper
NM_003850.3
p.S113G
c.337A>G
1 paper
NM_003850.3
p.F111I
c.331T>A
1 paper
NM_003850.3
p.T110T
c.330A>T
1 paper
NM_003850.3
p.T110T
c.330A>G
1 paper
NM_003850.3
p.R106S
c.318A>T
1 paper
NM_003850.3
p.A103_G104delFs
c.309_310delCA
1 paper
NM_003850.3
p.A103V
c.308C>T
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