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.G465C

c.1393G>T

Surrounding Variants

1 paper

NM_015052.5

p.A459S

c.1375G>T

1 paper

NM_015052.5

p.A455A

c.1365A>G

1 paper

NM_015052.5

p.E477G

c.1430A>G

1 paper

NM_015052.5

p.K483E

c.1447A>G

1 paper

NM_015052.5

p.E485K

c.1453G>A

1 paper

NM_015052.5

p.A438T

c.1312G>A

1 paper

NM_015052.5

p.T492M

c.1475C>T

2 papers

NM_015052.5

p.S495R

c.1483A>C

2 papers

NM_015052.5

p.S495R

c.1485C>A

2 papers

NM_015052.5

p.S495R

c.1485C>G

1 paper

NM_015052.5

p.R496G

c.1486C>G

1 paper

NM_015052.5

p.R496R

c.1488G>C