Varaico: Literature-Extracted Genetic Variants

Gene:SAV1
Variant:p.P45S

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.P45S
c.133C>T
Surrounding Variants
1 paper
NM_021818.4
p.P45A
c.133C>G
1 paper
NM_021818.4
p.P45_R46Fs
c.134_136delinsCCFs
1 paper
NM_021818.4
p.T43R
c.128C>G
1 paper
NM_021818.4
p.R47*
c.139C>T
1 paper
NM_021818.4
p.R47Q
c.140G>A
1 paper
NM_021818.4
p.T48S
c.142A>T
1 paper
NM_021818.4
p.T48S
c.143C>G
1 paper
NM_021818.4
p.D49E
c.147T>A
1 paper
NM_021818.4
p.R39Q
c.116G>A
1 paper
NM_021818.4
p.P35L
c.104C>T
1 paper
NM_021818.4
p.L33R
c.98T>G
1 paper
NM_021818.4
p.N58fs
c.172_173fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."