Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.M1V

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
9 papers
NM_005850.5
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_005850.5
p.M1L
c.1A>T
1 paper
NM_005850.5
p.M1L
c.1A>C
5 papers
NM_005850.5
p.M1T
c.2T>C
2 papers
NM_005850.5
p.M1K
c.2T>A
1 paper
NM_005850.5
p.A3V
c.8C>T
1 paper
NM_005850.5
p.G4R
c.10G>C
1 paper
NM_005850.5
p.E8insFs
c.22dupG
1 paper
NM_005850.5
p.N10fs
c.28_29fs
1 paper
NM_005850.5
p.N10delFs
c.29delT
1 paper
NM_005850.5
p.D12H
c.34G>C
5 papers
NM_005850.5
p.D12Splc
c.35-2A>G
1 paper
NM_005850.5
p.D12Splc
c.35-1G>A
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