Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.V280fs

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.V280fs
c.838_839fs
Surrounding Variants
1 paper
NM_015382.4
p.V280insFs
c.839dupT
1 paper
NM_015382.4
p.T278S
c.832A>T
1 paper
NM_015382.4
p.T285I
c.854C>T
1 paper
NM_015382.4
p.P291L
c.872C>T
2 papers
NM_015382.4
p.P264S
c.790C>T
1 paper
NM_015382.4
p.R239Q
c.716G>A
1 paper
NM_015382.4
p.L237S
c.710T>C
1 paper
NM_015382.4
p.L232F
c.696A>T
1 paper
NM_015382.4
p.L232F
c.696A>C
1 paper
NM_015382.4
p.A225V
c.674C>T
1 paper
NM_015382.4
p.P224A
c.670C>G
1 paper
NM_015382.4
p.E307*
c.919G>T
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