Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.H208R

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.H208R
c.623A>G
Surrounding Variants
5 papers
NM_005850.5
p.Q209*
c.625C>T
1 paper
NM_005850.5
p.P207L
c.620C>T
1 paper
NM_005850.5
p.L210L
c.628C>T
4 papers
NM_005850.5
p.D205insFs
c.614_615insG
3 papers
NM_005850.5
p.D205fs
c.613_614fs
2 papers
NM_005850.5
p.N222fs
c.664_665fs
3 papers
NM_005850.5
p.P221_N222insFs
c.661_664dup4
5 papers
NM_005850.5
p.R193*
c.577C>T
1 paper
NM_005850.5
p.V224M
c.670G>A
2 papers
NM_005850.5
p.V224fs
c.670_671fs
4 papers
NM_005850.5
p.E192*
c.574G>T
1 paper
NM_005850.5
p.V224_V225Fs
c.671_674delinsCTCCCAFs
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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."