Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4

SF3B4

100 papers

RefSeq Summary

This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA ...

Pfam Domains

RRM_1aa 15–85UCSCRNA recognition motif
RRM_1aa 102–173UCSCRNA recognition motif

Gene Aliases

HGNC Name

splicing factor 3b subunit 4

HGNC Alias Symbols

SAP49; SF3b49; Hsh49

Papers
RefSeq ID
Protein change
DNA change
1–12 of 166 variants
10 papers
NM_005850.5
p.G139G
c.417C>T
9 papers
NM_005850.5
p.M1V
c.1A>G
9 papers
NM_005850.5
p.R354insFs
c.1060dupC
5 papers
NM_005850.5
p.M1T
c.2T>C
5 papers
NM_005850.5
p.D12Splc
c.35-2A>G
5 papers
NM_005850.5
p.R193*
c.577C>T
5 papers
NM_005850.5
p.Q209*
c.625C>T
5 papers
NM_005850.5
p.R354fs
c.1060_1061fs
5 papers
NM_005850.5
p.R354fs
c.1060_1061fs
5 papers
NM_005850.5
p.H383delFs
c.1147delG
4 papers
NM_005850.5
p.V15delFs
c.43_44delAC
4 papers
NM_005850.5
p.W30delFs
c.88delA
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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."