Varaico: Literature-Extracted Genetic Variants

Gene:ECHDC2
Variant:p.W11*

ECHDC2

27 papers

Pfam Domains

ECH_1aa 37–124UCSCEnoyl-CoA hydratase/isomerase
ECH_1aa 114–244UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

enoyl-CoA hydratase domain containing 2

HGNC Alias Symbol

FLJ10948

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001198961.2
p.W11*
c.33G>A
Surrounding Variants
1 paper
NM_001198961.2
p.W11*
c.32G>A
1 paper
NM_001198961.2
p.R15W
c.43C>T
1 paper
NM_001198961.2
p.A24T
c.70G>A
1 paper
NM_001198961.2
p.R49K
c.146G>A
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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."