Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.A1084T

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
3 papers
NM_015382.4
p.A1084T
c.3250G>A
Surrounding Variants
1 paper
NM_015382.4
p.R1066W
c.3196C>T
1 paper
NM_015382.4
p.R1048P
c.3143G>C
1 paper
NM_015382.4
p.Q1042*
c.3124C>T
1 paper
NM_015382.4
p.Y1088*
c.3264T>G
1 paper
NM_015382.4
p.Y1088*
c.3264T>A
1 paper
NM_015382.4
p.D1116N
c.3346G>A
2 papers
NM_015382.4
p.I1117T
c.3350T>C
2 papers
NM_015382.4
p.R1120H
c.3359G>A
1 paper
NM_015382.4
p.S1148*
c.3443C>G
1 paper
NM_015382.4
p.S1148*
c.3443C>A
1 paper
NM_015382.4
p.S1161T
c.3481T>A
1 paper
NM_015382.4
p.D1173N
c.3517G>A
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