Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.T457I

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
1 paper
NM_000436.4
p.T457I
c.1370C>T
Surrounding Variants
10 papers
NM_000436.4
p.C456F
c.1367G>T
6 papers
NM_000436.4
p.R468C
c.1402C>T
1 paper
NM_000436.4
p.R468H
c.1403G>A
1 paper
NM_000436.4
p.K446_G447Splc
c.1339-2A>G
1 paper
NM_000436.4
p.K446_G447Splc
c.1339-40C>G
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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."