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.E502Q

c.1504G>C

Surrounding Variants

1 paper

NM_015052.5

p.R499fs

c.1495_1496fs

1 paper

NM_015052.5

p.R499delFs

c.1496delG

1 paper

NM_015052.5

p.R496R

c.1488G>C

1 paper

NM_015052.5

p.R496G

c.1486C>G

2 papers

NM_015052.5

p.S495R

c.1485C>A

2 papers

NM_015052.5

p.S495R

c.1485C>G

2 papers

NM_015052.5

p.S495R

c.1483A>C

1 paper

NM_015052.5

p.T492M

c.1475C>T

1 paper

NM_015052.5

p.S513S

c.1539T>C

1 paper

NM_015052.5

p.E485K

c.1453G>A

1 paper

NM_015052.5

p.K483E

c.1447A>G

1 paper

NM_015052.5

p.R521S

c.1563G>C