Varaico: Literature-Extracted Genetic Variants

WWP2

114 papers

RefSeq Summary

This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple proce...

Pfam Domains

WWaa 302–331UCSCWW domain

WWaa 332–361UCSCWW domain

WWaa 407–435UCSCWW domain

WWaa 446–475UCSCWW domain

HECTaa 565–870UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

WW domain containing E3 ubiquitin protein ligase 2

HGNC Alias Symbol

AIP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001270454.2

p.C838S

c.2513G>C

Surrounding Variants

2 papers

NM_001270454.2

p.C838S

c.2512T>A

1 paper

NM_001270454.2

p.T830I

c.2489C>T

1 paper

NM_001270454.2

p.E811K

c.2431G>A

1 paper

NM_001270454.2

p.V806fs

c.2416_2417fs

2 papers

NM_001270454.2

p.R803C

c.2407C>T

1 paper

NM_001270454.2

p.R841H

c.2522G>A

1 paper

NM_001270454.2

p.E851K

c.2551G>A

1 paper

NM_001270454.2

p.E865K

c.2593G>A

1 paper

NM_001270453.2

p.Q753L

c.2258A>T

1 paper

NM_001270454.2

p.E870Q

c.2608G>C

1 paper

NM_001270454.2

p.E870A

c.2609A>C

1 paper

NM_001270454.2

p.M757T

c.2270T>C