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.R1199Q

c.3596G>A

Surrounding Variants

1 paper

NM_015052.5

p.P1198S

c.3592C>T

1 paper

NM_015052.5

p.Q1207H

c.3621G>C

1 paper

NM_015052.5

p.Q1207H

c.3621G>T

1 paper

NM_015052.5

p.V1184A

c.3551T>C

1 paper

NM_015052.5

p.V1184I

c.3550G>A

1 paper

NM_015052.5

p.M1181I

c.3543G>A

1 paper

NM_015052.5

p.M1181I

c.3543G>C

1 paper

NM_015052.5

p.M1181I

c.3543G>T

1 paper

NM_015052.5

p.G1211Splc

c.3631+42G>A

1 paper

NM_015052.5

p.S1174T

c.3521G>C

1 paper

NM_015052.5

p.I1171fs

c.3511_3512fs

1 paper

NM_015052.5

p.I1171insFs

c.3511_3512insT