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.R208Q

c.623G>A

Surrounding Variants

2 papers

NM_001144967.3

p.G207_T209del3

c.619_626del9

1 paper

NM_001144967.3

p.Y210N

c.628T>A

1 paper

NM_001144967.3

p.Y210F

c.629A>T

1 paper

NM_001144967.3

p.D204A

c.611A>C

1 paper

NM_001144967.3

p.V212D

c.635T>A

1 paper

NM_001144967.3

p.D204H

c.610G>C

1 paper

NM_001144967.3

p.N213D

c.637A>G

1 paper

NM_001144967.3

p.H222D

c.664C>G

1 paper

NM_001144967.3

p.L190P

c.569T>C

1 paper

NM_001144967.3

p.S179L

c.536C>T

1 paper

NM_001144967.3

p.S179T

c.535T>A

1 paper

NM_001144967.3

p.M170L

c.508A>C