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

1 paper

NM_015052.5

p.Y693C

c.2078A>G

Surrounding Variants

1 paper

NM_015052.5

p.C697*

c.2091C>A

1 paper

NM_015052.5

p.S681L

c.2042C>T

1 paper

NM_015052.5

p.T717M

c.2150C>T

1 paper

NM_015052.5

p.D659Y

c.1975G>T

1 paper

NM_015052.5

p.T731T

c.2193G>A

1 paper

NM_015052.5

p.V732A

c.2195T>C

1 paper

NM_015052.5

p.T650M

c.1949C>T

1 paper

NM_015052.5

p.E739del1

c.2215_2217delGAG

1 paper

NM_015052.5

p.E739D

c.2217G>C

1 paper

NM_015052.5

p.E739D

c.2217G>T

1 paper

NM_015052.5

p.E740V

c.2219A>T

1 paper

NM_015052.5

p.A644V

c.1931C>T