Varaico: Literature-Extracted Genetic Variants

Gene:HECTD2
Variant:p.E219K

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
Selected Variant
2 papers
NM_182765.6
p.E219K
c.655G>A
Surrounding Variants
1 paper
NM_182765.6
p.E219*
c.655G>T
2 papers
NM_182765.6
p.V248I
c.742G>A
1 paper
NM_182765.6
p.Q256R
c.767A>G
1 paper
NM_182765.6
p.Q256H
c.768G>C
1 paper
NM_182765.6
p.Q256H
c.768G>T
1 paper
NM_182765.6
p.A258S
c.772G>T
1 paper
NM_182765.6
p.T200_P201Splc
c.601-6058T>C
1 paper
NM_182765.6
p.S276P
c.826T>C
1 paper
NM_182765.6
p.K278ins1
c.833_834insGAG
1 paper
NM_182765.6
p.F280L
c.838T>C
1 paper
NM_182765.6
p.Q282ins1
c.845_846insGAG
1 paper
NM_182765.6
p.R294C
c.880C>T
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