Varaico: Literature-Extracted Genetic Variants

Gene:CWC25
Variant:p.R343*

CWC25

30 papers

RefSeq Summary

This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012...

Pfam Domains

Cir_Naa 11–47UCSCN-terminal domain of CBF1 interacting co-repressor CIR
CWC25aa 66–157UCSCPre-mRNA splicing factor

Gene Aliases

HGNC Name

CWC25 spliceosome associated protein

HGNC Previous Symbol

CCDC49

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017748.5
p.R343*
c.1027C>T
Surrounding Variants
1 paper
NM_017748.5
p.H366H
c.1098T>C
1 paper
NM_017748.5
p.R372W
c.1114C>T
1 paper
NM_017748.5
p.L400M
c.1198C>A
1 paper
NM_017748.5
p.R406W
c.1216C>T
1 paper
NM_017748.5
p.S410C
c.1229C>G
1 paper
NM_017748.5
p.A417D
c.1250C>A
1 paper
NM_017748.5
p.P296L
c.887C>T
1 paper
NM_017748.5
p.R287L
c.860G>T
1 paper
NM_017748.5
p.R282fs
c.844_845fs
1 paper
NM_017748.5
p.S281delFs
c.842_843delGG
1 paper
NM_017748.5
p.G280fs
c.838_839fs
1 paper
NM_017748.5
p.S275C
c.823A>T
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