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.R557W

c.1669C>T

Surrounding Variants

1 paper

NM_015052.5

p.R557Q

c.1670G>A

1 paper

NM_015052.5

p.E554K

c.1660G>A

1 paper

NM_015052.5

p.R562C

c.1684C>T

2 papers

NM_015052.5

p.G551R

c.1651G>A

2 papers

NM_015052.5

p.G551R

c.1651G>C

1 paper

NM_015052.5

p.C550C

c.1650C>T

1 paper

NM_015052.5

p.A547V

c.1640C>T

1 paper

NM_015052.5

p.S569fs

c.1705_1706fs

1 paper

NM_015052.5

p.E543V

c.1628A>T

1 paper

NM_015052.5

p.A573T

c.1717G>A

1 paper

NM_015052.5

p.E541*

c.1621G>T

1 paper

NM_015052.5

p.P538T

c.1612C>A