Varaico: Literature-Extracted Genetic Variants

Gene:SAV1
Variant:p.A123delFs

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.A123delFs
c.367delC
Surrounding Variants
1 paper
NM_021818.4
p.A123fs
c.367_368fs
1 paper
NM_021818.4
p.E125*
c.373G>T
1 paper
NM_021818.4
p.E125K
c.373G>A
2 papers
NM_021818.4
p.T118A
c.352A>G
1 paper
NM_021818.4
p.F116L
c.348T>G
1 paper
NM_021818.4
p.F116L
c.348T>A
1 paper
NM_021818.4
p.F116L
c.346T>C
2 papers
NM_021818.4
p.R132*
c.394C>T
1 paper
NM_021818.4
p.S113F
c.338C>T
1 paper
NM_021818.4
p.S112A
c.334T>G
1 paper
NM_021818.4
p.S112T
c.334T>A
1 paper
NM_021818.4
p.S136S
c.408A>G
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