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.E740V

c.2219A>T

Surrounding Variants

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.E739del1

c.2215_2217delGAG

1 paper

NM_015052.5

p.A745A

c.2235G>A

1 paper

NM_015052.5

p.V732A

c.2195T>C

1 paper

NM_015052.5

p.T731T

c.2193G>A

1 paper

NM_015052.5

p.D751N

c.2251G>A

1 paper

NM_015052.5

p.S755C

c.2263A>T

1 paper

NM_015052.5

p.T717M

c.2150C>T

1 paper

NM_015052.5

p.G765S

c.2293G>A

1 paper

NM_015052.5

p.A766T

c.2296G>A

1 paper

NM_015052.5

p.A766P

c.2296G>C