Varaico: Literature-Extracted Genetic Variants

Gene:PRP4K
Variant:p.S257F

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.S257F
c.770C>T
Surrounding Variants
1 paper
NM_003913.5
p.P258S
c.772C>T
1 paper
NM_003913.5
p.D260G
c.779A>G
3 papers
NM_003913.5
p.R286H
c.857G>A
1 paper
NM_003913.5
p.R316W
c.946C>T
1 paper
NM_003913.5
p.R316Q
c.947G>A
1 paper
NM_003913.5
p.R316L
c.947G>T
1 paper
NM_003913.5
p.D197E
c.591T>A
1 paper
NM_003913.5
p.D197E
c.591T>G
2 papers
NM_003913.5
p.R193K
c.578G>A
1 paper
NM_003913.5
p.R191W
c.571C>T
1 paper
NM_003913.5
p.K327R
c.980A>G
1 paper
NM_003913.5
p.A333T
c.997G>A
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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."