Varaico: Literature-Extracted Genetic Variants

NEDD4L

283 papers

RefSeq Summary

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thu...

Pfam Domains

C2aa 20–126UCSCC2 domain

WWaa 195–224UCSCWW domain

WWaa 387–416UCSCWW domain

WWaa 499–528UCSCWW domain

WWaa 550–579UCSCWW domain

HECTaa 669–974UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

NEDD4 like E3 ubiquitin protein ligase

HGNC Alias Symbols

KIAA0439; RSP5; NEDD4-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001144967.3

p.A283A

c.849T>A

Surrounding Variants

1 paper

NM_001144967.3

p.G284G

c.852A>T

1 paper

NM_001144967.3

p.I282I

c.846C>T

1 paper

NM_001144967.3

p.S286T

c.856T>A

1 paper

NM_001144967.3

p.S286S

c.858T>A

2 papers

NM_001144967.3

p.T275T

c.825C>T

2 papers

NM_001144967.3

p.P293Q

c.878C>A

2 papers

NM_001144967.3

p.E271_P272Splc

c.814-6T>A

1 paper

NM_001144967.3

p.S312fs

c.934_935fs

1 paper

NM_001144967.3

p.L315I

c.943C>A

1 paper

NM_001144967.3

p.S321A

c.961T>G

4 papers

NM_001144967.3

p.S321Y

c.962C>A

5 papers

NM_001144967.3

p.S328A

c.982T>G