Varaico: Literature-Extracted Genetic Variants

Gene:PRPF18
Variant:p.D180N

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
Selected Variant
1 paper
NM_003675.4
p.D180N
c.538G>A
Surrounding Variants
1 paper
NM_003675.4
p.A171T
c.511G>A
1 paper
NM_003675.4
p.T165T
c.495A>T
1 paper
NM_003675.4
p.V143I
c.427G>A
1 paper
NM_003675.4
p.L195fs
c.583_584fs
1 paper
NM_003675.4
p.N266S
c.797A>G
1 paper
NM_003675.4
p.A273D
c.818C>A
1 paper
NM_003675.4
p.G282C
c.844G>T
1 paper
NM_003675.4
p.V283I
c.847G>A
1 paper
NM_003675.4
p.S299fs
c.895_896fs
1 paper
NM_003675.4
p.S299delFs
c.896delC
1 paper
NM_003675.4
p.S299fs
c.895_896fs
2 papers
NM_003675.4
p.N307D
c.919A>G
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