Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.R732*

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
1 paper
NM_015382.4
p.R732*
c.2194C>T
Surrounding Variants
1 paper
NM_015382.4
p.R732L
c.2195G>T
1 paper
NM_015382.4
p.S720I
c.2159G>T
1 paper
NM_015382.4
p.C762C
c.2286T>C
1 paper
NM_015382.4
p.D784fs
c.2350_2351fs
1 paper
NM_015382.4
p.E783insFs
c.2349dupA
2 papers
NM_015382.4
p.T801I
c.2402C>T
1 paper
NM_015382.4
p.R820K
c.2459G>A
1 paper
NM_015382.4
p.S717T
c.2150G>C
1 paper
NM_015382.4
p.F694L
c.2082C>G
1 paper
NM_015382.4
p.F694L
c.2082C>A
1 paper
NM_015382.4
p.F694L
c.2080T>C
1 paper
NM_015382.4
p.S690S
c.2070T>C
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