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

1–12 of 208 variants

11 papers

NM_001144967.3

p.S233L

c.698C>T

10 papers

NM_001144967.3

p.P355L

c.1064C>T

9 papers

NM_001144967.3

p.R897Q

c.2690G>A

8 papers

NM_001144967.3

p.Y679C

c.2036A>G

8 papers

NM_001144967.3

p.E893K

c.2677G>A

6 papers

NM_001144967.3

p.E271A

c.812A>C

5 papers

NM_001144967.3

p.S328A

c.982T>G

5 papers

NM_001144967.3

p.Q694H

c.2082G>C

5 papers

NM_001144967.3

p.Q694H

c.2082G>T

4 papers

NM_001144967.3

p.D119E

c.357T>A

4 papers

NM_001144967.3

p.R208Q

c.623G>A

4 papers

NM_001144967.3

p.S321Y

c.962C>A