Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.E2592Q

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.E2592Q
c.7774G>C
Surrounding Variants
9 papers
NM_015382.4
p.C2579G
c.7735T>G
1 paper
NM_015382.4
p.R2564H
c.7691G>A
1 paper
NM_015382.4
p.L2521R
c.7562T>G
1 paper
NM_015382.4
p.L2478insFs
c.7433dupT
2 papers
NM_015382.4
p.P2474L
c.7421C>T
1 paper
NM_015382.4
p.Q2459K
c.7375C>A
1 paper
NM_015382.4
p.M2454T
c.7361T>C
1 paper
NM_015382.4
p.D2451H
c.7351G>C
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
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