Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.G55D

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.G55D
c.164G>A
Surrounding Variants
1 paper
NM_005850.5
p.G55V
c.164G>T
1 paper
NM_005850.5
p.G55A
c.164G>C
4 papers
NM_005850.5
p.G55Splc
c.164-1G>A
3 papers
NM_005850.5
p.F58insFs
c.174dupT
2 papers
NM_005850.5
p.V59fs
c.175_176fs
1 paper
NM_005850.5
p.L62V
c.184T>G
1 paper
NM_005850.5
p.E65*
c.193G>T
1 paper
NM_005850.5
p.A70S
c.208G>T
1 paper
NM_005850.5
p.Y69_A70del2
c.205_209del6
1 paper
NM_005850.5
p.Y80H
c.238T>C
1 paper
NM_005850.5
p.I84R
c.251T>G
1 paper
NM_005850.5
p.H92insFs
c.276dupC
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