Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.H383delFs

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.H383delFs
c.1147delG
Surrounding Variants
4 papers
NM_005850.5
p.H383insFs
c.1147dupC
1 paper
NM_005850.5
p.H383fs
c.1147_1148fs
3 papers
NM_005850.5
p.H383insFs
c.1148dupA
2 papers
NM_005850.5
p.H383fs
c.1147_1148fs
1 paper
NM_005850.5
p.Y385_G387insFs
c.1153_1159dup7
1 paper
NM_005850.5
p.G387fs
c.1159_1160fs
2 papers
NM_005850.5
p.R390*
c.1168C>T
1 paper
NM_005850.5
p.H371_R374delFs
c.1111_1121del11
1 paper
NM_005850.5
p.R374C
c.1120C>T
1 paper
NM_005850.5
p.P392insFs
c.1175dupC
1 paper
NM_005850.5
p.P393fs
c.1177_1178fs
1 paper
NM_005850.5
p.P391_P393delFs
c.1172_1179del8
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