Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.P262T

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.P262T
c.784C>A
Surrounding Variants
1 paper
NM_000436.4
p.P262R
c.785C>G
1 paper
NM_000436.4
p.I261V
c.781A>G
1 paper
NM_000436.4
p.I259_H260insFs
c.777_778insT
1 paper
NM_000436.4
p.R268C
c.802C>T
5 papers
NM_000436.4
p.R268H
c.803G>A
1 paper
NM_000436.4
p.F254L
c.762T>G
1 paper
NM_000436.4
p.F254L
c.762T>A
1 paper
NM_000436.4
p.F254L
c.760T>C
2 papers
NM_000436.4
p.G252insFs
c.754_755insCT
3 papers
NM_000436.4
p.E273*
c.817G>T
1 paper
NM_000436.4
p.E273delFs
c.817delC
1 paper
NM_000436.4
p.K277R
c.830A>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."