Varaico: Literature-Extracted Genetic Variants

Gene:WBP11
Variant:p.R228fs

WBP11

52 papers

RefSeq Summary

This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mo...

Pfam Domains

Wbp11aa 12–94UCSCWW domain binding protein 11

Gene Aliases

HGNC Name

WW domain binding protein 11

HGNC Alias Symbols

NPWBP; SIPP1; PPP1R165; BUG13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016312.3
p.R228fs
c.682_683fs
Surrounding Variants
1 paper
NM_016312.3
p.P227insFs
c.680dupC
1 paper
NM_016312.3
p.R230*
c.688C>T
2 papers
NM_016312.3
p.V219A
c.656T>C
1 paper
NM_016312.3
p.M214insFs
c.641_642insC
1 paper
NM_016312.3
p.M214K
c.641T>A
1 paper
NM_016312.3
p.Q210H
c.630A>T
1 paper
NM_016312.3
p.Q210H
c.630A>C
1 paper
NM_016312.3
p.P208T
c.622C>A
1 paper
NM_016312.3
p.P204delFs
c.612delA
1 paper
NM_016312.3
p.P194L
c.581C>T
1 paper
NM_016312.3
p.Q162*
c.484C>T
1 paper
NM_016312.3
p.D155insFs
c.464dupA
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