Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.R193*

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
5 papers
NM_005850.5
p.R193*
c.577C>T
Surrounding Variants
4 papers
NM_005850.5
p.E192*
c.574G>T
1 paper
NM_005850.5
p.A190P
c.568G>C
3 papers
NM_005850.5
p.H187delFs
c.560_561delAT
2 papers
NM_005850.5
p.H187fs
c.559_560fs
1 paper
NM_005850.5
p.K183fs
c.547_548fs
1 paper
NM_005850.5
p.K183Q
c.547A>C
2 papers
NM_005850.5
p.S182insFs
c.546dupC
3 papers
NM_005850.5
p.D205fs
c.613_614fs
4 papers
NM_005850.5
p.D205insFs
c.614_615insG
1 paper
NM_005850.5
p.K179*
c.535A>T
1 paper
NM_005850.5
p.P207L
c.620C>T
1 paper
NM_005850.5
p.H208R
c.623A>G
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