Varaico: Literature-Extracted Genetic Variants

Gene:PRP4K
Variant:p.D66E

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.D66E
c.198T>A
Surrounding Variants
1 paper
NM_003913.5
p.D66N
c.196G>A
1 paper
NM_003913.5
p.D64_K65insT
c.190_194ins3
8 papers
NM_003913.5
p.I83V
c.247A>G
1 paper
NM_003913.5
p.K47fs
c.139_140fs
1 paper
NM_003913.5
p.K46fs
c.136_137fs
1 paper
NM_003913.5
p.K44fs
c.130_131fs
1 paper
NM_003913.5
p.K46delFs
c.137delA
1 paper
NM_003913.5
p.H43_K44insT
c.127_131ins3
1 paper
NM_003913.5
p.L105S
c.314T>C
1 paper
NM_003913.5
p.K22insFs
c.64_65insT
1 paper
NM_003913.5
p.K111N
c.333A>T
1 paper
NM_003913.5
p.E21G
c.62A>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."