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

4 papers

NM_001144967.3

p.D119E

c.357T>A

Surrounding Variants

1 paper

NM_001144967.3

p.M122L

c.364A>C

1 paper

NM_001144967.3

p.M122L

c.364A>T

1 paper

NM_001144967.3

p.R124*

c.370C>T

1 paper

NM_001144967.3

p.R124Q

c.371G>A

1 paper

NM_001144967.3

p.Y126H

c.376T>C

1 paper

NM_001144967.3

p.R136S

c.408A>T

1 paper

NM_001144967.3

p.H138H

c.414T>C

1 paper

NM_001144967.3

p.R141Q

c.422G>A

2 papers

NM_001144967.3

p.R147*

c.439C>T

1 paper

NM_001144967.3

p.A151V

c.452C>T

1 paper

NM_001144967.3

p.P154insFs

c.460_461insA

1 paper

NM_001144967.3

p.K155I

c.464A>T