Varaico: Literature-Extracted Genetic Variants

Gene:PRP4K
Variant:p.P630H

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.P630H
c.1889C>A
Surrounding Variants
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.W668*
c.2003G>A
1 paper
NM_003913.5
p.W668*
c.2004G>A
1 paper
NM_003913.5
p.R676C
c.2026C>T
1 paper
NM_003913.5
p.R703*
c.2107C>T
1 paper
NM_003913.5
p.A708V
c.2123C>T
1 paper
NM_003913.5
p.N620S
c.1859A>G
1 paper
NM_003913.5
p.R597W
c.1789C>T
1 paper
NM_003913.5
p.R575K
c.1724G>A
1 paper
NM_003913.5
p.S569C
c.1705A>T
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."