Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.N636D

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.N636D
c.1906A>G
Surrounding Variants
1 paper
NM_015382.4
p.S625P
c.1873T>C
1 paper
NM_015382.4
p.K623E
c.1867A>G
1 paper
NM_015382.4
p.E587_D588Splc
c.1762-15T>G
2 papers
NM_015382.4
p.E587_D588Splc
c.1761+2T>G
1 paper
NM_015382.4
p.E587G
c.1760A>G
1 paper
NM_015382.4
p.R670K
c.2009G>A
1 paper
NM_015382.4
p.R672G
c.2014A>G
1 paper
NM_015382.4
p.R672M
c.2015G>T
1 paper
NM_015382.4
p.S690S
c.2070T>C
1 paper
NM_015382.4
p.F694L
c.2080T>C
1 paper
NM_015382.4
p.F694L
c.2082C>G
1 paper
NM_015382.4
p.F694L
c.2082C>A
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