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.G351D

c.1052G>A

Surrounding Variants

10 papers

NM_001144967.3

p.P355L

c.1064C>T

1 paper

NM_001144967.3

p.P355P

c.1065G>A

1 paper

NM_001144967.3

p.S342S

c.1026T>C

1 paper

NM_001144967.3

p.C341S

c.1022G>C

1 paper

NM_001144967.3

p.C341S

c.1021T>A

1 paper

NM_001144967.3

p.R339W

c.1015A>T

1 paper

NM_001144966.3

p.A242V

c.725C>T

NM_001144967.3

p.A363V

c.1088C>T

1 paper

NM_001144967.3

p.T367A

c.1099A>G

1 paper

NM_001144967.3

p.T369M

c.1106C>T

1 paper

NM_001144967.3

p.P374L

c.1121C>T

1 paper

NM_001144967.3

p.T375M

c.1124C>T

5 papers

NM_001144967.3

p.S328A

c.982T>G