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.R991Q

c.2972G>A

Surrounding Variants

1 paper

NM_015052.5

p.R992Q

c.2975G>A

1 paper

NM_015052.5

p.A994S

c.2980G>T

1 paper

NM_015052.5

p.R995H

c.2984G>A

1 paper

NM_015052.5

p.C982F

c.2945G>T

1 paper

NM_015052.5

p.R1004Q

c.3011G>A

1 paper

NM_015052.5

p.D1005E

c.3015C>A

1 paper

NM_015052.5

p.D1005E

c.3015C>G

1 paper

NM_015052.5

p.I1010T

c.3029T>C

1 paper

NM_015052.5

p.R1022Q

c.3065G>A

1 paper

NM_015052.5

p.K1033_S1034Splc

c.3099+1G>T

1 paper

NM_015052.5

p.H968Y

c.2902C>T

1 paper

NM_015052.5

p.A954V

c.2861C>T