Varaico: Literature-Extracted Genetic Variants

Gene:OXCT2
Variant:p.G225Splc

OXCT2

51 papers

RefSeq Summary

The protein encoded by this gene catalyzes the transfer of a CoA group from succinate to acetoacetate and is an important enzyme in ketone body catabolism. The encoded protein localizes to the mitocho...

Pfam Domains

CoA_transaa 43–272UCSCCoenzyme A transferase
CoA_transaa 299–498UCSCCoenzyme A transferase

Gene Aliases

HGNC Name

3-oxoacid CoA-transferase 2

HGNC Alias Symbols

FKSG25; FLJ00030; SCOT-T

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022120.2
p.P456L
c.1367C>T
Surrounding Variants
1 paper
NM_022120.2
p.P456S
c.1366C>T
1 paper
NM_022120.2
p.E451G
c.1352A>G
1 paper
NM_022120.2
p.V472L
c.1414G>T
1 paper
NM_022120.2
p.V472L
c.1414G>C
4 papers
NM_022120.2
p.E480G
c.1439A>G
1 paper
NM_022120.2
p.T482M
c.1445C>T
7 papers
NM_022120.2
p.D494N
c.1480G>A
1 paper
NM_022120.2
p.K418N
c.1254A>T
1 paper
NM_022120.2
p.K418N
c.1254A>C
1 paper
NM_022120.2
p.G414S
c.1240G>A
1 paper
NM_022120.2
p.T499M
c.1496C>T
1 paper
NM_022120.2
p.A502D
c.1505C>A
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