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.G376insFs

c.1126_1127insA

Surrounding Variants

1 paper

NM_015052.5

p.G376S

c.1126G>A

1 paper

NM_015052.5

p.I364F

c.1090A>T

1 paper

NM_015052.5

p.P393T

c.1177C>A

1 paper

NM_015052.5

p.S356N

c.1067G>A

1 paper

NM_015052.5

p.P402P

c.1206C>T

3 papers

NM_015052.5

p.G404R

c.1210G>C

1 paper

NM_015052.5

p.G404D

c.1211G>A

1 paper

NM_015052.5

p.E411Q

c.1231G>C

1 paper

NM_015052.5

p.A425A

c.1275A>C

1 paper

NM_015052.5

p.S432T

c.1294T>A

1 paper

NM_015052.5

p.A438T

c.1312G>A

1 paper

NM_015052.5

p.A455A

c.1365A>G