Varaico: Literature-Extracted Genetic Variants

Gene:CENPQ
Variant:p.D266G

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
3 papers
NM_018132.4
p.D266G
c.797A>G
Surrounding Variants
1 paper
NM_018132.4
p.A261delFs
c.783delC
1 paper
NM_018132.4
p.I258T
c.773T>C
2 papers
NM_018132.4
p.S249*
c.746C>A
2 papers
NM_018132.4
p.S249*
c.746C>G
1 paper
NM_018132.4
p.L242F
c.726G>C
1 paper
NM_018132.4
p.L242F
c.726G>T
1 paper
NM_018132.4
p.D241N
c.721G>A
1 paper
NM_018132.4
p.Q225_K226Splc
c.676-64C>A
1 paper
NM_018132.4
p.K198_Q199ins4
c.594_595ins12
1 paper
NM_018132.4
p.K198K
c.594A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."