Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.T435N

OXCT1

102 papers

RefSeq Summary

This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body cataboli...

Pfam Domains

CoA_transaa 1–86UCSCCoenzyme A transferase
CoA_transaa 116–315UCSCCoenzyme A transferase

Gene Aliases

HGNC Name

3-oxoacid CoA-transferase 1

HGNC Alias Symbol

SCOT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_000436.4
p.T435N
c.1304C>A
Surrounding Variants
1 paper
NM_000436.4
p.L429F
c.1287A>T
1 paper
NM_000436.4
p.L429F
c.1287A>C
1 paper
NM_000436.4
p.L429insFs
c.1286dupT
1 paper
NM_000436.4
p.K421R
c.1262A>G
1 paper
NM_000436.4
p.K418R
c.1253A>G
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