Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.I104T

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.I104T
c.311T>C
Surrounding Variants
1 paper
NM_005850.5
p.L96M
c.286C>A
1 paper
NM_005850.5
p.H92insFs
c.276dupC
1 paper
NM_005850.5
p.L116fs
c.346_347fs
1 paper
NM_005850.5
p.L115insFs
c.345dupG
1 paper
NM_005850.5
p.D118delFs
c.353_354delAT
1 paper
NM_005850.5
p.I84R
c.251T>G
2 papers
NM_005850.5
p.Q128*
c.382C>T
1 paper
NM_005850.5
p.Y80H
c.238T>C
1 paper
NM_005850.5
p.Y69_A70del2
c.205_209del6
1 paper
NM_005850.5
p.A70S
c.208G>T
1 paper
NM_005850.5
p.G139R
c.415G>C
1 paper
NM_005850.5
p.G139fs
c.415_416fs
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