Varaico: Literature-Extracted Genetic Variants

Gene:SF3B6
Variant:p.I30I

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.I30I
c.90C>T
Surrounding Variants
1 paper
NM_016047.4
p.T31I
c.92C>T
1 paper
NM_016047.4
p.K29*
c.85A>T
1 paper
NM_016047.4
p.N25_L26delFs
c.75_76delAA
1 paper
NM_016047.4
p.M35R
c.104T>G
1 paper
NM_016047.4
p.M35I
c.105G>C
1 paper
NM_016047.4
p.P44S
c.130C>T
1 paper
NM_016047.4
p.M35_P44del10
c.103_131del30
1 paper
NM_016047.4
p.R12_P15delFs
c.35_44del10
2 papers
NM_016047.4
p.P14L
c.41C>T
1 paper
NM_016047.4
p.P14T
c.40C>A
1 paper
NM_016047.4
p.V50delins
c.149delinsC
1 paper
NM_016047.4
p.V50Splc
c.149+1G>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."