Varaico: Literature-Extracted Genetic Variants

Gene:PRP4K
Variant:p.E1005insFs

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.E1005insFs
c.3013_3014insA
Surrounding Variants
1 paper
NM_003913.5
p.E1005fs
c.3013_3014fs
1 paper
NM_003913.5
p.A989P
c.2965G>C
1 paper
NM_003913.5
p.K977K
c.2931G>A
1 paper
NM_003913.5
p.K911_M912Splc
c.2733+8A>G
1 paper
NM_003913.5
p.R856H
c.2567G>A
1 paper
NM_003913.5
p.Y849*
c.2547T>A
1 paper
NM_003913.5
p.Y849*
c.2547T>G
1 paper
NM_003913.5
p.G836R
c.2506G>A
1 paper
NM_003913.5
p.G836R
c.2506G>C
1 paper
NM_003913.5
p.T828N
c.2483C>A
1 paper
NM_003913.5
p.D815A
c.2444A>C
1 paper
NM_003913.5
p.H788Q
c.2364T>A
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