Varaico: Literature-Extracted Genetic Variants

Gene:CENPQ
Variant:p.R145delFs

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.R145delFs
c.433delA
Surrounding Variants
1 paper
NM_018132.4
p.R145fs
c.433_434fs
1 paper
NM_018132.4
p.A146fs
c.436_437fs
1 paper
NM_018132.4
p.A146_A150delFs
c.438_450del13
1 paper
NM_018132.4
p.A150P
c.448G>C
1 paper
NM_018132.4
p.A156T
c.466G>A
1 paper
NM_018132.4
p.Q159_E160Splc
c.477+33A>G
1 paper
NM_018132.4
p.K198_Q199ins4
c.594_595ins12
1 paper
NM_018132.4
p.K198K
c.594A>G
1 paper
NM_018132.4
p.E89G
c.266A>G
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.W73L
c.218G>T
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