Varaico: Literature-Extracted Genetic Variants

Gene:HECTD4
Variant:p.E3180E

HECTD4

106 papers

Pfam Domains

HECTaa 3944–4280UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT domain E3 ubiquitin protein ligase 4

HGNC Previous Symbol

C12orf51

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001388303.1
p.E3180E
c.9540G>A
Surrounding Variants
1 paper
NM_001388303.1
p.L3173F
c.9517C>T
1 paper
NM_001388303.1
p.Q3190*
c.9568C>T
1 paper
NM_001388303.1
p.D3246G
c.9737A>G
1 paper
NM_001388303.1
p.T3252M
c.9755C>T
1 paper
NM_001388303.1
p.V3340M
c.10018G>A
1 paper
NM_001388303.1
p.S3565L
c.10694C>T
1 paper
NM_001388303.1
p.A3598T
c.10792G>A
1 paper
NM_001388303.1
p.E3132Q
c.9394G>C
1 paper
NM_001388303.1
p.S3111S
c.9333C>T
1 paper
NM_001388303.1
p.V3108insFs
c.9322_9323insG
1 paper
NM_001388303.1
p.G3669R
c.11005G>C
2 papers
NM_001388303.1
p.L3688L
c.11062C>T
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