Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.P322H

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.P322H
c.965C>A
Surrounding Variants
1 paper
NM_005850.5
p.A324S
c.970G>T
2 papers
NM_005850.5
p.S329P
c.985T>C
1 paper
NM_005850.5
p.L311insFs
c.931_932ins4
1 paper
NM_005850.5
p.P334R
c.1001C>G
4 papers
NM_005850.5
p.R336*
c.1006C>T
1 paper
NM_005850.5
p.P338Q
c.1013C>A
2 papers
NM_005850.5
p.G305Splc
c.914-1G>A
1 paper
NM_005850.5
p.P342L
c.1025C>T
1 paper
NM_005850.5
p.P346S
c.1036C>T
1 paper
NM_005850.5
p.P347L
c.1040C>T
1 paper
NM_005850.5
p.M351delFs
c.1052delA
1 paper
NM_005850.5
p.P353fs
c.1057_1058fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."