Varaico: Literature-Extracted Genetic Variants

Gene:HECTD2

HECTD2

48 papers

Pfam Domains

HECTaa 466–776UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT domain E3 ubiquitin protein ligase 2

HGNC Alias Symbol

FLJ37306

Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
2 papers
NM_182765.6
p.P19A
c.55C>G
2 papers
NM_182765.6
p.G54S
c.160G>A
2 papers
NM_182765.6
p.S61R
c.183T>A
2 papers
NM_182765.6
p.I63N
c.188T>A
2 papers
NM_182765.6
p.V83I
c.247G>A
2 papers
NM_182765.6
p.D109E
c.327T>A
2 papers
NM_182765.6
p.V139I
c.415G>A
2 papers
NM_182765.6
p.E219K
c.655G>A
2 papers
NM_182765.6
p.V248I
c.742G>A
1 paper
NM_182765.6
p.S2S
c.6T>C
1 paper
NM_182765.6
p.L14L
c.40C>T
1 paper
NM_182765.6
p.A17A
c.51G>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."