Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.H200Y

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.H200Y
c.598C>T
Surrounding Variants
1 paper
NM_015382.4
p.K196Q
c.586A>C
2 papers
NM_015382.4
p.L191L
c.571C>T
1 paper
NM_015382.4
p.S190A
c.568T>G
1 paper
NM_015382.4
p.H159R
c.476A>G
1 paper
NM_015382.4
p.I151V
c.451A>G
3 papers
NM_015382.4
p.L144*
c.431T>A
1 paper
NM_015382.4
p.A211T
c.631G>A
1 paper
NM_015382.4
p.R220H
c.659G>A
1 paper
NM_015382.4
p.P224A
c.670C>G
1 paper
NM_015382.4
p.A225V
c.674C>T
1 paper
NM_015382.4
p.L232F
c.696A>T
1 paper
NM_015382.4
p.L232F
c.696A>C
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