Varaico: Literature-Extracted Genetic Variants

Gene:SF3B2
Variant:p.E286*

SF3B2

92 papers

RefSeq Summary

This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U...

Pfam Domains

SAPaa 23–59UCSCSAP domain
DUF382aa 470–596UCSCDomain of unknown function (DUF382)
PSPaa 605–655UCSCPSP

Gene Aliases

HGNC Name

splicing factor 3b subunit 2

HGNC Alias Symbols

SAP145; Cus1; SF3b145

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006842.3
p.E286*
c.856G>T
Surrounding Variants
2 papers
NM_006842.3
p.R283H
c.848G>A
1 paper
NM_006842.3
p.S289A
c.865T>G
1 paper
NM_006842.3
p.S289F
c.866C>T
1 paper
NM_006842.3
p.Q290*
c.868C>T
1 paper
NM_006842.3
p.Q290R
c.869A>G
1 paper
NM_006842.3
p.D262Y
c.784G>T
1 paper
NM_006842.3
p.T298fs
c.892_893fs
1 paper
NM_006842.3
p.T298_D299delFs
c.894_895delAG
1 paper
NM_006842.3
p.T315insFs
c.945dupA
1 paper
NM_006842.3
p.S317F
c.950C>T
1 paper
NM_006842.3
p.V318I
c.952G>A
1 paper
NM_006842.3
p.P336P
c.1008C>T
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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."