Varaico: Literature-Extracted Genetic Variants

Gene:OXCT2
Variant:p.N342K

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.N342K
c.1026C>G
Surrounding Variants
1 paper
NM_022120.2
p.N342K
c.1026C>A
1 paper
NM_022120.2
p.L318Q
c.953T>A
1 paper
NM_022120.2
p.L318V
c.952C>G
1 paper
NM_022120.2
p.G373W
c.1117G>T
1 paper
NM_022120.2
p.E311Q
c.931G>C
3 papers
NM_022120.2
p.A378T
c.1132G>A
1 paper
NM_022120.2
p.R301L
c.902G>T
1 paper
NM_022120.2
p.T300M
c.899C>T
1 paper
NM_022120.2
p.L396P
c.1187T>C
4 papers
NM_022120.2
p.L285R
c.854T>G
1 paper
NM_022120.2
p.G405G
c.1215C>T
1 paper
NM_022120.2
p.D406E
c.1218C>G
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