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.R844Q

c.2531G>A

Surrounding Variants

1 paper

NM_015052.5

p.E836G

c.2507A>G

1 paper

NM_015052.5

p.R859G

c.2575C>G

1 paper

NM_015052.5

p.R859C

c.2575C>T

2 papers

NM_015052.5

p.R859H

c.2576G>A

1 paper

NM_015052.5

p.P860L

c.2579C>T

1 paper

NM_015052.5

p.M878I

c.2634G>A

1 paper

NM_015052.5

p.E829Q

c.2485G>C

1 paper

NM_015052.5

p.H821L

c.2462A>T

1 paper

NM_015052.5

p.L814F

c.2440C>T

1 paper

NM_015052.5

p.Q813H

c.2439G>C

1 paper

NM_015052.5

p.Q813H

c.2439G>T

1 paper

NM_015052.5

p.Q889*

c.2665C>T