Varaico: Literature-Extracted Genetic Variants

Gene:ECHDC1
Variant:p.T161I

ECHDC1

27 papers

Pfam Domains

ECH_1aa 59–292UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

ethylmalonyl-CoA decarboxylase 1

HGNC Alias Symbol

dJ351K20.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001002030.2
p.T161I
c.482C>T
Surrounding Variants
1 paper
NM_001002030.2
p.E158A
c.473A>C
1 paper
NM_001002030.2
p.P141L
c.422C>T
1 paper
NM_001002030.2
p.T135I
c.404C>T
3 papers
NM_001002030.2
p.M130T
c.389T>C
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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."