Varaico: Literature-Extracted Genetic Variants

HECW1

7p14.1-p13 (UCSC)OMIM GTEx

181 papers

Pfam Domains

HECW_Naa 65–184UCSCN-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2

C2aa 207–318UCSCC2 domain

WWaa 831–860UCSCWW domain

HECW1_helixaa 948–1014UCSCHelical box domain of E3 ubiquitin-protein ligase HECW1

Gene Aliases

HGNC Name

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1

HGNC Alias Symbols

KIAA0322; NEDL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015052.5

p.A243T

c.727G>A

Surrounding Variants

1 paper

NM_015052.5

p.P242L

c.725C>T

1 paper

NM_015052.5

p.P242S

c.724C>T

1 paper

NM_015052.5

p.I240M

c.720C>G

1 paper

NM_015052.5

p.H247delFs

c.739delC

1 paper

NM_015052.5

p.R252S

c.756A>C

1 paper

NM_015052.5

p.R252S

c.756A>T

1 paper

NM_015052.5

p.I233F

c.697A>T

1 paper

NM_015052.5

p.I256V

c.766A>G

1 paper

NM_015052.5

p.I256L

c.766A>T

1 paper

NM_015052.5

p.N258S

c.773A>G

1 paper

NM_015052.5

p.G220V

c.659G>T

1 paper

NM_015052.5

p.L217M

c.649T>A