Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.W30delFs

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
4 papers
NM_005850.5
p.W30delFs
c.88delA
Surrounding Variants
2 papers
NM_005850.5
p.W30fs
c.88_89fs
1 paper
NM_005850.5
p.L28P
c.83T>C
1 paper
NM_005850.5
p.Q35Q
c.105G>A
1 paper
NM_005850.5
p.V24F
c.70G>T
1 paper
NM_005850.5
p.G37V
c.110G>T
1 paper
NM_005850.5
p.G18A
c.53G>C
1 paper
NM_005850.5
p.G18E
c.53G>A
1 paper
NM_005850.5
p.Y16fs
c.46_47fs
4 papers
NM_005850.5
p.V15delFs
c.43_44delAC
2 papers
NM_005850.5
p.Y16fs
c.46_47fs
1 paper
NM_005850.5
p.D47N
c.139G>A
1 paper
NM_005850.5
p.D12Splc
c.35-1G>A
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