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

2 papers

NM_015052.5

p.R1461C

c.4381C>T

Surrounding Variants

1 paper

NM_015052.5

p.Q1455*

c.4363C>T

1 paper

NM_015052.5

p.V1453I

c.4357G>A

1 paper

NM_015052.5

p.R1450H

c.4349G>A

1 paper

NM_015052.5

p.E1438*

c.4312G>T

1 paper

NM_015052.5

p.E1433V

c.4298A>T

1 paper

NM_015052.5

p.T1432M

c.4295C>T

1 paper

NM_015052.5

p.I1490I

c.4470C>T

1 paper

NM_015052.5

p.D1491N

c.4471G>A

1 paper

NM_015052.5

p.N1497S

c.4490A>G

1 paper

NM_015052.5

p.A1518V

c.4553C>T

1 paper

NM_015052.5

p.R1521C

c.4561C>T

1 paper

NM_015052.5

p.R1521H

c.4562G>A