Varaico: Literature-Extracted Genetic Variants

Gene:CENPQ
Variant:p.K40insFs

CENPQ

27 papers

RefSeq Summary

CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic ...

Pfam Domains

CENP-Qaa 116–266UCSCCENP-Q, a CENPA-CAD centromere complex subunit

Gene Aliases

HGNC Name

centromere protein Q

HGNC Previous Symbol

C6orf139

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018132.4
p.K40insFs
c.118dupA
Surrounding Variants
1 paper
NM_018132.4
p.V39fs
c.115_116fs
1 paper
NM_018132.4
p.E52D
c.156A>T
1 paper
NM_018132.4
p.K22R
c.65A>G
4 papers
NM_018132.4
p.G63R
c.187G>A
4 papers
NM_018132.4
p.G63R
c.187G>C
1 paper
NM_018132.4
p.W73L
c.218G>T
1 paper
NM_018132.4
p.K78N
c.234G>C
1 paper
NM_018132.4
p.K78N
c.234G>T
1 paper
NM_018132.4
p.E89G
c.266A>G
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