Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.D2451H

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.D2451H
c.7351G>C
Surrounding Variants
1 paper
NM_015382.4
p.M2454T
c.7361T>C
1 paper
NM_015382.4
p.Q2459K
c.7375C>A
1 paper
NM_015382.4
p.T2438R
c.7313C>G
1 paper
NM_015382.4
p.E2433D
c.7299A>T
1 paper
NM_015382.4
p.E2433D
c.7299A>C
1 paper
NM_015382.4
p.R2419K
c.7256G>A
1 paper
NM_015382.4
p.P2402S
c.7204C>T
1 paper
NM_015382.4
p.K2394E
c.7180A>G
1 paper
NM_015382.4
p.N2385K
c.7155C>G
1 paper
NM_015382.4
p.N2385K
c.7155C>A
1 paper
NM_015382.4
p.S2380P
c.7138T>C
1 paper
NM_015382.4
p.L2379F
c.7135C>T
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