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.C702S

c.2104T>A

Surrounding Variants

1 paper

NM_001144967.3

p.C702S

c.2105G>C

1 paper

NM_015277.6

p.S679P

c.2035T>C

5 papers

NM_001144967.3

p.Q694H

c.2082G>C

NM_015277.6

p.Q674H

c.2022G>C

5 papers

NM_001144967.3

p.Q694H

c.2082G>T

NM_015277.6

p.Q674H

c.2022G>T

1 paper

NM_001144967.3

p.F710L

c.2128T>C

1 paper

NM_001144967.3

p.F710L

c.2130C>A

1 paper

NM_001144967.3

p.F710L

c.2130C>G

1 paper

NM_001144967.3

p.H723R

c.2168A>G

1 paper

NM_015277.6

p.L706P

c.2117T>C

1 paper

NM_001144967.3

p.T688R

c.2063C>G

8 papers

NM_001144967.3

p.Y679C

c.2036A>G

NM_015277.6

p.Y659C

c.1976A>G

4 papers

NM_001144967.3

p.Y679H

c.2035T>C

NM_015277.6

p.Y659H

c.1975T>C