Varaico: Literature-Extracted Genetic Variants

Gene:SAV1
Variant:p.Q261Q

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.Q261Q
c.783A>G
Surrounding Variants
1 paper
NM_021818.4
p.Y262H
c.784T>C
1 paper
NM_021818.4
p.P268T
c.802C>A
3 papers
NM_021818.4
p.D254H
c.760G>C
1 paper
NM_021818.4
p.E247*
c.739G>T
2 papers
NM_021818.4
p.S245L
c.734C>T
2 papers
NM_021818.4
p.R242*
c.724C>T
1 paper
NM_021818.4
p.L231_P238delFs
c.693_714del22
4 papers
NM_021818.4
p.R233Q
c.698G>A
2 papers
NM_021818.4
p.R233*
c.697C>T
1 paper
NM_021818.4
p.L231fs
c.691_692fs
1 paper
NM_021818.4
p.H229R
c.686A>G
1 paper
NM_021818.4
p.S228N
c.683G>A
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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."