Varaico: Literature-Extracted Genetic Variants

Gene:SAV1
Variant:p.W209*

SAV1

60 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

WWaa 201–230UCSCWW domain

Gene Aliases

HGNC Name

salvador family WW domain containing protein 1

HGNC Alias Symbols

WW45; WWP4; salvador

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021818.4
p.W209*
c.627G>A
Surrounding Variants
3 papers
NM_021818.4
p.W209C
c.627G>T
3 papers
NM_021818.4
p.W209C
c.627G>C
1 paper
NM_021818.4
p.W209*
c.626G>A
3 papers
NM_021818.4
p.R214K
c.641G>A
1 paper
NM_021818.4
p.P203fs
c.607_608fs
1 paper
NM_021818.4
p.P203delFs
c.608delG
1 paper
NM_021818.4
p.D219N
c.655G>A
1 paper
NM_021818.4
p.P200R
c.599C>G
2 papers
NM_021818.4
p.H220Q
c.660T>G
2 papers
NM_021818.4
p.H220Q
c.660T>A
1 paper
NM_021818.4
p.G195C
c.583G>T
1 paper
NM_021818.4
p.H194insFs
c.580_581ins40
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."