Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.R966Q

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.R966Q
c.2897G>A
Surrounding Variants
1 paper
NM_015382.4
p.P979L
c.2936C>T
1 paper
NM_015382.4
p.L980V
c.2938C>G
1 paper
NM_015382.4
p.E952K
c.2854G>A
1 paper
NM_015382.4
p.R1005H
c.3014G>A
1 paper
NM_015382.4
p.E1023G
c.3068A>G
1 paper
NM_015382.4
p.V923fs
c.2767_2768fs
1 paper
NM_015382.4
p.T922Fs
c.2764delinsACFs
1 paper
NM_015382.4
p.T922fs
c.2764_2765fs
2 papers
NM_015382.4
p.T922insFs
c.2764dupA
2 papers
NM_015382.4
p.I906V
c.2716A>G
1 paper
NM_015382.4
p.K901fs
c.2701_2702fs
1 paper
NM_015382.4
p.K901delFs
c.2702delT
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