Varaico: Literature-Extracted Genetic Variants

Gene:ECHDC1

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
1–12 of 18 variants
3 papers
NM_001002030.2
p.M130T
c.389T>C
2 papers
NM_001002030.2
p.T161I
c.482C>T
1 paper
NM_001002030.2
p.M1K
c.2T>A
1 paper
NM_001002030.2
p.T8I
c.23C>T
1 paper
NM_001002030.2
p.E35delFs
c.104_105delTT
1 paper
NM_001002030.2
p.L41fs
c.121_122fs
1 paper
NM_001002030.2
p.G46insFs
c.136_137insA
1 paper
NM_001002030.2
p.G74_V75del1
c.221_223delCAC
1 paper
NM_001002030.2
p.G93A
c.278G>C
1 paper
NM_001002030.2
p.T104_F105delFs
c.312_313delAA
1 paper
NM_001002030.2
p.T104_F105del2
c.310_314del6
1 paper
NM_001002030.2
p.D110H
c.328G>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."