Varaico: Literature-Extracted Genetic Variants

Gene:CWC25
Variant:p.R90ins1

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.R90ins1
c.268_269insTTT
Surrounding Variants
1 paper
NM_017748.5
p.M80T
c.239T>C
1 paper
NM_017748.5
p.C107S
c.319T>A
1 paper
NM_017748.5
p.C107S
c.320G>C
1 paper
NM_017748.5
p.M130V
c.388A>G
1 paper
NM_017748.5
p.V158E
c.473T>A
1 paper
NM_017748.5
p.M160K
c.479T>A
1 paper
NM_017748.5
p.K178E
c.532A>G
1 paper
NM_017748.5
p.K177_K178del1
c.531_533delTTC
1 paper
NM_017748.5
p.K177_K178del2
c.529_533del6
1 paper
NM_017748.5
p.R198C
c.592C>T
1 paper
NM_017748.5
p.Y227C
c.680A>G
1 paper
NM_017748.5
p.D59_V60delFs
c.177_178delCA
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