Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1

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
1–12 of 209 variants
9 papers
NM_015382.4
p.C2579G
c.7735T>G
3 papers
NM_015382.4
p.L144*
c.431T>A
3 papers
NM_015382.4
p.E882Q
c.2644G>C
3 papers
NM_015382.4
p.A1084T
c.3250G>A
3 papers
NM_015382.4
p.A2091T
c.6271G>A
2 papers
NM_015382.4
p.R76H
c.227G>A
2 papers
NM_015382.4
p.V93A
c.278T>C
2 papers
NM_015382.4
p.L191L
c.571C>T
2 papers
NM_015382.4
p.P264S
c.790C>T
2 papers
NM_015382.4
p.M392V
c.1174A>G
2 papers
NM_015382.4
p.E587_D588Splc
c.1761+2T>G
2 papers
NM_015382.4
p.T801I
c.2402C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."