Varaico: Literature-Extracted Genetic Variants

Gene:PRP4K

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
1–12 of 78 variants
8 papers
NM_003913.5
p.I83V
c.247A>G
3 papers
NM_003913.5
p.R286H
c.857G>A
2 papers
NM_003913.5
p.E14Q
c.40G>C
2 papers
NM_003913.5
p.R193K
c.578G>A
2 papers
NM_003913.5
p.F658L
c.1972T>C
2 papers
NM_003913.5
p.F658L
c.1974C>A
2 papers
NM_003913.5
p.F658L
c.1974C>G
1 paper
NM_003913.5
p.M1I
c.3G>A
1 paper
NM_003913.5
p.M1I
c.3G>C
1 paper
NM_003913.5
p.M1I
c.3G>T
1 paper
NM_003913.5
p.A4A
c.12G>T
1 paper
NM_003913.5
p.P13R
c.38C>G
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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."