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.K822R

c.2465A>G

Surrounding Variants

2 papers

NM_001144967.3

p.E829_G830Splc

c.2488-7C>T

1 paper

NM_001144967.3

p.E829_G830Splc

c.2488-3C>T

1 paper

NM_001144967.3

p.P836S

c.2506C>T

1 paper

NM_001144967.3

p.E849fs

c.2545_2546fs

1 paper

NM_001144967.3

p.D809Y

c.2425G>T

1 paper

NM_001144967.3

p.I808insFs

c.2423_2424insTT

2 papers

NM_001144967.3

p.S795A

c.2383T>G

1 paper

NM_001144967.3

p.L790S

c.2369T>C

2 papers

NM_001144967.3

p.D789E

c.2367T>A

2 papers

NM_001144967.3

p.D789E

c.2367T>G

1 paper

NM_001144967.3

p.Y786H

c.2356T>C

1 paper

NM_001144967.3

p.C853S

c.2557T>A