Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.P353_R354del2

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
Selected Variant
1 paper
NM_005850.5
p.P353_R354del2
c.1057_1061del6
Surrounding Variants
5 papers
NM_005850.5
p.R354fs
c.1060_1061fs
9 papers
NM_005850.5
p.R354insFs
c.1060dupC
1 paper
NM_005850.5
p.R354insFs
c.1060_1061insCC
1 paper
NM_005850.5
p.P353delFs
c.1059delG
1 paper
NM_005850.5
p.P353_R354delFs
c.1059_1060delGG
5 papers
NM_005850.5
p.R354fs
c.1060_1061fs
1 paper
NM_005850.5
p.P353fs
c.1057_1058fs
1 paper
NM_005850.5
p.M351delFs
c.1052delA
1 paper
NM_005850.5
p.P347L
c.1040C>T
1 paper
NM_005850.5
p.P346S
c.1036C>T
1 paper
NM_005850.5
p.G363Splc
c.1087+7C>T
1 paper
NM_005850.5
p.P342L
c.1025C>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."