Varaico: Literature-Extracted Genetic Variants

WWP1

160 papers

RefSeq Summary

WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splic...

Pfam Domains

C2aa 18–119UCSCC2 domain

WWaa 351–380UCSCWW domain

WWaa 383–412UCSCWW domain

WWaa 458–487UCSCWW domain

WWaa 498–527UCSCWW domain

HECTaa 617–922UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

WW domain containing E3 ubiquitin protein ligase 1

HGNC Alias Symbols

AIP5; DKFZP434D2111

Papers

RefSeq ID

Protein change

DNA change

1–12 of 112 variants

10 papers

NM_007013.4

p.K740N

c.2220G>C

10 papers

NM_007013.4

p.K740N

c.2220G>T

10 papers

NM_007013.4

p.N745S

c.2234A>G

9 papers

NM_007013.4

p.P297H

c.890C>A

6 papers

NM_007013.4

p.E798V

c.2393A>T

5 papers

NM_007013.4

p.K63R

c.188A>G

4 papers

NM_007013.4

p.R86H

c.257G>A

3 papers

NM_007013.4

p.A323S

c.967G>T

3 papers

NM_007013.4

p.C890S

c.2668T>A

3 papers

NM_007013.4

p.C890S

c.2669G>C

2 papers

NM_007013.4

p.R180Splc

c.540-5T>C

2 papers

NM_007013.4

p.L198V

c.592C>G