Varaico: Literature-Extracted Genetic Variants

Gene:PRP4K
Variant:p.Q546*

PRP4K

91 papers

RefSeq Summary

Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belon...

Pfam Domains

Pkinaseaa 687–1003UCSCProtein kinase domain

Gene Aliases

HGNC Name

pre-mRNA processing factor kinase PRP4K

HGNC Previous Symbol

PRPF4B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003913.5
p.Q546*
c.1636C>T
Surrounding Variants
1 paper
NM_003913.5
p.D558N
c.1672G>A
1 paper
NM_003913.5
p.S569C
c.1705A>T
1 paper
NM_003913.5
p.R575K
c.1724G>A
1 paper
NM_003913.5
p.R597W
c.1789C>T
1 paper
NM_003913.5
p.N620S
c.1859A>G
1 paper
NM_003913.5
p.S520A
c.1558T>G
1 paper
NM_003913.5
p.P630H
c.1889C>A
1 paper
NM_003913.5
p.R464*
c.1390A>T
1 paper
NM_003913.5
p.R457C
c.1369C>T
1 paper
NM_003913.5
p.R444I
c.1331G>T
1 paper
NM_003913.5
p.T439A
c.1315A>G
2 papers
NM_003913.5
p.F658L
c.1972T>C
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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."