Varaico: Literature-Extracted Genetic Variants

Gene:ECHDC2

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
1–12 of 24 variants
2 papers
NM_001198961.2
p.W11*
c.33G>A
2 papers
NM_001198961.2
p.M118I
c.354G>T
2 papers
NM_001198961.2
p.M118I
c.354G>C
2 papers
NM_001198961.2
p.M118I
c.354G>A
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
1 paper
NM_001198961.2
p.R78C
c.232C>T
1 paper
NM_001198961.2
p.G93Splc
c.277+5G>C
1 paper
NM_001198961.2
p.E106Q
c.316G>C
1 paper
NM_001198961.2
p.R115Q
c.344G>A
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."