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.L648P

c.1943T>C

Surrounding Variants

1 paper

NM_001144967.3

p.A646D

c.1937C>A

1 paper

NM_001144967.3

p.D659G

c.1976A>G

1 paper

NM_001144967.3

p.G662A

c.1985G>C

1 paper

NM_001144967.3

p.R633W

c.1897C>T

1 paper

NM_001144967.3

p.S631A

c.1891T>G

1 paper

NM_001144967.3

p.I627T

c.1880T>C

1 paper

NM_001144967.3

p.E674D

c.2022G>T

4 papers

NM_001144967.3

p.Y679H

c.2035T>C

NM_015277.6

p.Y659H

c.1975T>C

8 papers

NM_001144967.3

p.Y679C

c.2036A>G

NM_015277.6

p.Y659C

c.1976A>G

1 paper

NM_001144967.3

p.P615H

c.1844C>A

1 paper

NM_001144967.3

p.T688R

c.2063C>G

5 papers

NM_001144967.3

p.Q694H

c.2082G>C

NM_015277.6

p.Q674H

c.2022G>C