Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.V93A

HECTD1

136 papers

Pfam Domains

Ank_2aa 424–487UCSCAnkyrin repeats (3 copies)
Sad1_UNCaa 1107–1240UCSCSad1 / UNC-like C-terminal
MIB_HERC2aa 1277–1336UCSCMib_herc2
BTHBaa 1894–1964UCSCBasic tilted helix bundle domain
HECTaa 2218–2610UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

HECT domain E3 ubiquitin protein ligase 1

HGNC Alias Symbol

KIAA1131

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015382.4
p.V93A
c.278T>C
Surrounding Variants
1 paper
NM_015382.4
p.R90*
c.268C>T
1 paper
NM_015382.4
p.V108I
c.322G>A
2 papers
NM_015382.4
p.R76H
c.227G>A
1 paper
NM_015382.4
p.E72K
c.214G>A
1 paper
NM_015382.4
p.N69S
c.206A>G
1 paper
NM_015382.4
p.P50H
c.149C>A
1 paper
NM_015382.4
p.T47I
c.140C>T
1 paper
NM_015382.4
p.T47R
c.140C>G
3 papers
NM_015382.4
p.L144*
c.431T>A
1 paper
NM_015382.4
p.I151V
c.451A>G
1 paper
NM_015382.4
p.H159R
c.476A>G
1 paper
NM_015382.4
p.S190A
c.568T>G
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