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.A612S

c.1834G>T

Surrounding Variants

1 paper

NM_015052.5

p.E602K

c.1804G>A

1 paper

NM_015052.5

p.D598Y

c.1792G>T

1 paper

NM_015052.5

p.H632N

c.1894C>A

1 paper

NM_015052.5

p.S633S

c.1899C>T

1 paper

NM_015052.5

p.T590A

c.1768A>G

1 paper

NM_015052.5

p.S589Y

c.1766C>A

1 paper

NM_015052.5

p.E586A

c.1757A>C

1 paper

NM_015052.5

p.E581*

c.1741G>T

1 paper

NM_015052.5

p.A644V

c.1931C>T

1 paper

NM_015052.5

p.G576S

c.1726G>A

1 paper

NM_015052.5

p.G576fs

c.1726_1727fs

1 paper

NM_015052.5

p.T650M

c.1949C>T