Varaico: Literature-Extracted Genetic Variants

Gene:SAV1
Variant:p.F139L

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
2 papers
NM_021818.4
p.F139L
c.417T>G
Surrounding Variants
2 papers
NM_021818.4
p.F139L
c.417T>A
2 papers
NM_021818.4
p.F139L
c.415T>C
1 paper
NM_021818.4
p.S136S
c.408A>G
1 paper
NM_021818.4
p.Q143*
c.427C>T
1 paper
NM_021818.4
p.R146W
c.436C>T
2 papers
NM_021818.4
p.R132*
c.394C>T
2 papers
NM_021818.4
p.H153R
c.458A>G
1 paper
NM_021818.4
p.E154insFs
c.460_461insT
1 paper
NM_021818.4
p.E154K
c.460G>A
1 paper
NM_021818.4
p.E125*
c.373G>T
1 paper
NM_021818.4
p.E125K
c.373G>A
1 paper
NM_021818.4
p.E154fs
c.460_461fs
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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."