Varaico: Literature-Extracted Genetic Variants

Gene:SAV1

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
1–12 of 143 variants
4 papers
NM_021818.4
p.R233Q
c.698G>A
3 papers
NM_021818.4
p.W209C
c.627G>T
3 papers
NM_021818.4
p.W209C
c.627G>C
3 papers
NM_021818.4
p.R214K
c.641G>A
3 papers
NM_021818.4
p.D254H
c.760G>C
2 papers
NM_021818.4
p.E109fs
c.325_326fs
2 papers
NM_021818.4
p.T118A
c.352A>G
2 papers
NM_021818.4
p.R132*
c.394C>T
2 papers
NM_021818.4
p.F139L
c.415T>C
2 papers
NM_021818.4
p.F139L
c.417T>G
2 papers
NM_021818.4
p.F139L
c.417T>A
2 papers
NM_021818.4
p.H153R
c.458A>G
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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."