Varaico: Literature-Extracted Genetic Variants

Gene:CENPK

CENPK

99 papers

RefSeq Summary

CENPK 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-Kaa 10–269UCSCCentromere-associated protein K
CENP-Kaa 93–206UCSCCentromere-associated protein K

Gene Aliases

HGNC Name

centromere protein K

HGNC Alias Symbols

FKSG14; SOLT; CENP-K

Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
2 papers
NM_022145.5
p.D52N
c.154G>A
2 papers
NM_022145.5
p.R157Splc
c.470+1G>A
1 paper
NM_022145.5
p.M1I
c.3G>T
1 paper
NM_022145.5
p.M1insFs
c.2dupT
1 paper
NM_022145.5
p.M1I
c.3G>C
1 paper
NM_022145.5
p.M1I
c.3G>A
1 paper
NM_022145.5
p.M1insFs
c.3dupG
1 paper
NM_022145.5
p.Q3insFs
c.7_8insA
1 paper
NM_022145.5
p.E4D
c.12G>C
1 paper
NM_022145.5
p.E4E
c.12G>A
1 paper
NM_022145.5
p.D5D
c.15T>C
1 paper
NM_022145.5
p.P8A
c.22C>G
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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."