Varaico: Literature-Extracted Genetic Variants

Gene:CENATAC
Variant:p.W244*

CENATAC

25 papers

RefSeq Summary

This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing r...

Pfam Domains

CCDC84aa 6–323UCSCCoiled coil protein 84

Gene Aliases

HGNC Name

centrosomal AT-AC splicing factor

HGNC Previous Symbol

CCDC84

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198489.3
p.W244*
c.732G>A
Surrounding Variants
1 paper
NM_198489.3
p.W244*
c.731G>A
1 paper
NM_198489.3
p.E250_Y251del1
c.750_752delATA
2 papers
NM_198489.3
p.E268V
c.803A>T
2 papers
NM_198489.3
p.V282A
c.845T>C
1 paper
NM_198489.3
p.G301C
c.901G>T
1 paper
NM_198489.3
p.R308R
c.924C>T
1 paper
NM_198489.3
p.R309C
c.925C>T
1 paper
NM_198489.3
p.G239D
c.716G>A
1 paper
NM_198489.3
p.N235T
c.704A>C
1 paper
NM_198489.3
p.H227R
c.680A>G
1 paper
NM_198489.3
p.G226D
c.677G>A
1 paper
NM_198489.3
p.S139F
c.416C>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."