Varaico: Literature-Extracted Genetic Variants

Gene:HECTD4
Variant:p.H1639Y

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.H1639Y
c.4915C>T
Surrounding Variants
1 paper
NM_001388303.1
p.V1632I
c.4894G>A
1 paper
NM_001388303.1
p.C1506F
c.4517G>T
1 paper
NM_001109662.4
p.P1695L
c.5084C>T
1 paper
NM_001388303.1
p.Q1726*
c.5176C>T
1 paper
NM_001388303.1
p.L1809I
c.5425C>A
1 paper
NM_001388303.1
p.R1233L
c.3698G>T
1 paper
NM_001388303.1
p.T1924I
c.5771C>T
1 paper
NM_001388303.1
p.W1175L
c.3524G>T
1 paper
NM_001388303.1
p.T1154delFs
c.3461delG
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