Varaico: Literature-Extracted Genetic Variants

Gene:HECTD1
Variant:p.T2109M

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.T2109M
c.6326C>T
Surrounding Variants
1 paper
NM_015382.4
p.R2124*
c.6370C>T
1 paper
NM_015382.4
p.H2130N
c.6388C>A
1 paper
NM_015382.4
p.E2139K
c.6415G>A
1 paper
NM_015382.4
p.M2149L
c.6445A>T
1 paper
NM_015382.4
p.M2149L
c.6445A>C
1 paper
NM_015382.4
p.E2167G
c.6500A>G
1 paper
NM_015382.4
p.A2179fs
c.6535_6536fs
1 paper
NM_015382.4
p.A2179delFs
c.6536delG
1 paper
NM_015382.4
p.D2196G
c.6587A>G
1 paper
NM_015382.4
p.V2220L
c.6658G>T
1 paper
NM_015382.4
p.V2220L
c.6658G>C
1 paper
NM_015382.4
p.R2222R
c.6664A>C
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