Varaico: Literature-Extracted Genetic Variants

Gene:SAV1
Variant:p.H153R

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.H153R
c.458A>G
Surrounding Variants
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.E154fs
c.460_461fs
1 paper
NM_021818.4
p.D155Y
c.463G>T
1 paper
NM_021818.4
p.D155H
c.463G>C
2 papers
NM_021818.4
p.D155fs
c.463_464fs
1 paper
NM_021818.4
p.D155del1
c.463_464delGTC
1 paper
NM_021818.4
p.Y156fs
c.466_467fs
1 paper
NM_021818.4
p.E160*
c.478G>T
1 paper
NM_021818.4
p.R146W
c.436C>T
1 paper
NM_021818.4
p.Q143*
c.427C>T
2 papers
NM_021818.4
p.F139L
c.417T>G
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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."