Varaico: Literature-Extracted Genetic Variants

Gene:HTD2

HTD2

2 papers

RefSeq Summary

This gene encodes a protein that localizes to the mitochondria and can function as a 3-hydroxyacyl thioester dehydratase. This gene is located just downstream of the gene for ribonuclease P/MRP subuni...

Pfam Domains

MaoC_dehydratasaa 33–152UCSCMaoC like domain

Gene Aliases

HGNC Name

hydroxyacyl-thioester dehydratase type 2

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001348712.2
p.D62A
c.185A>C
1 paper
NM_001348712.2
p.I82V
c.244A>G
1 paper
NM_001348712.2
p.S113G
c.337A>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."