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.A766P

c.2296G>C

Surrounding Variants

1 paper

NM_015052.5

p.A766T

c.2296G>A

1 paper

NM_015052.5

p.G765S

c.2293G>A

2 papers

NM_015052.5

p.A774V

c.2321C>T

1 paper

NM_015052.5

p.S755C

c.2263A>T

1 paper

NM_015052.5

p.G778R

c.2332G>A

1 paper

NM_015052.5

p.G778R

c.2332G>C

1 paper

NM_015052.5

p.H779Q

c.2337C>A

1 paper

NM_015052.5

p.H779Q

c.2337C>G

1 paper

NM_015052.5

p.H779H

c.2337C>T

1 paper

NM_015052.5

p.D751N

c.2251G>A

1 paper

NM_015052.5

p.A745A

c.2235G>A

1 paper

NM_015052.5

p.S789Y

c.2366C>A