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

1 paper

NM_001270454.2

p.G439Splc

c.1317-1G>T

Surrounding Variants

1 paper

NM_001270454.2

p.P448L

c.1343C>T

1 paper

NM_001270454.2

p.W450G

c.1348T>G

1 paper

NM_001270454.2

p.R460Q

c.1379G>A

1 paper

NM_001270454.2

p.R468H

c.1403G>A

1 paper

NM_001270454.2

p.K473R

c.1418A>G

1 paper

NM_001270454.2

p.R436Q

c.1307G>A

1 paper

NM_001270454.2

p.W497C

c.1491G>C

1 paper

NM_001270454.2

p.W497C

c.1491G>T

1 paper

NM_001270454.2

p.K498R

c.1493A>G

1 paper

NM_001270454.2

p.Y581F

c.1742A>T

1 paper

NM_001270454.2

p.G583R

c.1747G>A

1 paper

NM_001270454.2

p.W411G

c.1231T>G