Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.R224K

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
5 papers
NM_000436.4
p.R224K
c.671G>A
Surrounding Variants
1 paper
NM_000436.4
p.I222insFs
c.666dupT
5 papers
NM_000436.4
p.V221M
c.661G>A
5 papers
NM_000436.4
p.G219E
c.656G>A
1 paper
NM_000436.4
p.R217L
c.650G>T
5 papers
NM_000436.4
p.R217*
c.649C>T
4 papers
NM_000436.4
p.A215V
c.644C>T
1 paper
NM_000436.4
p.W213*
c.639G>A
1 paper
NM_000436.4
p.W213*
c.638G>A
1 paper
NM_000436.4
p.L209F
c.627G>T
1 paper
NM_000436.4
p.L209F
c.627G>C
1 paper
NM_000436.4
p.Q195delFs
c.585delC
2 papers
NM_000436.4
p.R224K
c.671G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."