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.L641P

c.1922T>C

Surrounding Variants

2 papers

NM_001270454.2

p.Y631F

c.1892A>T

1 paper

NM_001270454.2

p.E665Q

c.1993G>C

1 paper

NM_001270454.2

p.E665*

c.1993G>T

1 paper

NM_001270454.2

p.K688R

c.2063A>G

1 paper

NM_001270454.2

p.E699K

c.2095G>A

1 paper

NM_001270454.2

p.E703*

c.2107G>T

1 paper

NM_001270454.2

p.L708R

c.2123T>G

1 paper

NM_001270454.2

p.R712C

c.2134C>T

2 papers

NM_001270454.2

p.V717M

c.2149G>A

1 paper

NM_001270454.2

p.P733L

c.2198C>T

3 papers

NM_001270454.2

p.M752T

c.2255T>C

2 papers

NM_001270454.2

p.Q753L

c.2258A>T