Varaico: Literature-Extracted Genetic Variants

Gene:SAV1
Variant:p.L93*

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.L93*
c.278T>A
Surrounding Variants
1 paper
NM_021818.4
p.L93*
c.278T>G
1 paper
NM_021818.4
p.R92_L93del1
c.275_277delATC
1 paper
NM_021818.4
p.S94A
c.280T>G
1 paper
NM_021818.4
p.S94F
c.281C>T
1 paper
NM_021818.4
p.S90T
c.269G>C
1 paper
NM_021818.4
p.R87fs
c.259_260fs
1 paper
NM_021818.4
p.R101*
c.301A>T
1 paper
NM_021818.4
p.R101fs
c.301_302fs
1 paper
NM_021818.4
p.P107H
c.320C>A
2 papers
NM_021818.4
p.E109fs
c.325_326fs
1 paper
NM_021818.4
p.P77R
c.230C>G
1 paper
NM_021818.4
p.S112A
c.334T>G
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