Varaico: Literature-Extracted Genetic Variants

Gene:SF3B6

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
1–12 of 37 variants
2 papers
NM_016047.4
p.P14L
c.41C>T
2 papers
NM_016047.4
p.N72fs
c.214_215fs
2 papers
NM_016047.4
p.P124L
c.371C>T
1 paper
NM_016047.4
p.M1T
c.2T>C
1 paper
NM_016047.4
p.M1K
c.2T>A
1 paper
NM_016047.4
p.M1insFs
c.2dupT
1 paper
NM_016047.4
p.M1_A2delFs
c.1_4del4
1 paper
NM_016047.4
p.M3_Q4insFs
c.9_10insGT
1 paper
NM_016047.4
p.M1_Q4del4
c.1_11del12
1 paper
NM_016047.4
p.A5V
c.14C>T
1 paper
NM_016047.4
p.P14T
c.40C>A
1 paper
NM_016047.4
p.R12_P15delFs
c.35_44del10
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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."