Varaico: Literature-Extracted Genetic Variants

Gene:PRPF18

PRPF18

30 papers

RefSeq Summary

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the...

Pfam Domains

PRP4aa 84–112UCSCpre-mRNA processing factor 4 (PRP4) like
Prp18aa 189–331UCSCPrp18 domain

Gene Aliases

HGNC Name

pre-mRNA processing factor 18

HGNC Alias Symbol

hPrp18

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
2 papers
NM_003675.4
p.N307D
c.919A>G
1 paper
NM_003675.4
p.M1K
c.2T>A
1 paper
NM_003675.4
p.L20V
c.58C>G
1 paper
NM_003675.4
p.L21L
c.61C>T
1 paper
NM_003675.4
p.V22_E23Splc
c.67-1190C>T
1 paper
NM_003675.4
p.R30H
c.89G>A
1 paper
NM_003675.4
p.Q56R
c.167A>G
1 paper
NM_003675.4
p.K57N
c.171A>T
1 paper
NM_003675.4
p.R87*
c.259A>T
1 paper
NM_003675.4
p.L97Q
c.290T>A
1 paper
NM_003675.4
p.K111N
c.333A>C
1 paper
NM_003675.4
p.K111N
c.333A>T
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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."