Varaico: Literature-Extracted Genetic Variants

Gene:SF3B6
Variant:p.M101ins1

SF3B6

86 papers

RefSeq Summary

This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceo...

Pfam Domains

RRM_1aa 21–88UCSCRNA recognition motif

Gene Aliases

HGNC Name

splicing factor 3b subunit 6

HGNC Alias Symbols

P14; SF3B14a; Ht006; CGI-110; SAP14a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016047.4
p.M101ins1
c.301_302insAGA
Surrounding Variants
1 paper
NM_016047.4
p.L113L
c.339C>T
1 paper
NM_016047.4
p.K116N
c.348A>C
1 paper
NM_016047.4
p.I119F
c.355A>T
1 paper
NM_016047.4
p.N120_T121insFs
c.359_363dup5
2 papers
NM_016047.4
p.P124L
c.371C>T
1 paper
NM_016047.4
p.K116_K125delFs
c.348_373del26
1 paper
NM_016047.4
p.L90S
c.269T>C
1 paper
NM_016047.4
p.C83Y
c.248G>A
1 paper
NM_016047.4
p.F80Y
c.239T>A
1 paper
NM_016047.4
p.D75_H76del2
c.223_227del6
2 papers
NM_016047.4
p.N72fs
c.214_215fs
1 paper
NM_016047.4
p.I67insFs
c.199dupA
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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."