Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.T58M

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.T58M
c.173C>T
Surrounding Variants
1 paper
NM_000436.4
p.I53S
c.158T>G
1 paper
NM_000436.4
p.V50V
c.150A>T
1 paper
NM_000436.4
p.V50I
c.148G>A
1 paper
NM_000436.4
p.A49V
c.146C>T
1 paper
NM_000436.4
p.K41E
c.121A>G
1 paper
NM_000436.4
p.H39Y
c.115C>T
2 papers
NM_000436.4
p.R38C
c.112C>T
1 paper
NM_000436.4
p.S31A
c.91T>G
1 paper
NM_000436.4
p.C28S
c.83G>C
1 paper
NM_000436.4
p.C28S
c.82T>A
2 papers
NM_000436.4
p.G27*
c.79G>T
1 paper
NM_000436.4
p.N72D
c.214A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."