Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.V133E

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.V133E
c.398T>A
Surrounding Variants
1 paper
NM_000436.4
p.Q138_G139Splc
c.414+7A>C
1 paper
NM_000436.4
p.R124*
c.370C>T
1 paper
NM_000436.4
p.E121K
c.361G>A
1 paper
NM_000436.4
p.V112D
c.335T>A
1 paper
NM_000436.4
p.L99S
c.296T>C
2 papers
NM_000436.4
p.A142P
c.424G>C
1 paper
NM_000436.4
p.A150T
c.448G>A
1 paper
NM_000436.4
p.P153H
c.458C>A
1 paper
NM_000436.4
p.G160G
c.480G>T
1 paper
NM_000436.4
p.V165delFs
c.493delC
1 paper
NM_000436.4
p.K173E
c.517A>G
1 paper
NM_000436.4
p.K173N
c.519A>T
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