Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.A2091T

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.A2091T
c.6271G>A
Surrounding Variants
1 paper
NM_015382.4
p.E2050_E2051Splc
c.6151-1G>A
1 paper
NM_015382.4
p.I2049T
c.6146T>C
1 paper
NM_015382.4
p.R2005H
c.6014G>A
1 paper
NM_015382.4
p.P1984L
c.5951C>T
1 paper
NM_015382.4
p.K1981I
c.5942A>T
1 paper
NM_015382.4
p.L1979F
c.5937A>T
1 paper
NM_015382.4
p.L1979F
c.5937A>C
1 paper
NM_015382.4
p.D1906N
c.5716G>A
1 paper
NM_015382.4
p.E1897Q
c.5689G>C
1 paper
NM_015382.4
p.C1893W
c.5679C>G
1 paper
NM_015382.4
p.T1873Splc
c.5619-10T>G
1 paper
NM_015382.4
p.T2109M
c.6326C>T
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