Varaico: Literature-Extracted Genetic Variants

Gene:CENPK
Variant:p.D52N

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
Selected Variant
2 papers
NM_022145.5
p.D52N
c.154G>A
Surrounding Variants
1 paper
NM_022145.5
p.L50_T51delFs
c.150_153del4
1 paper
NM_022145.5
p.L50_T51insFs
c.150_151ins4
1 paper
NM_022145.5
p.Q56_L57Splc
c.168+2T>C
1 paper
NM_022145.5
p.I45_G46del1
c.134_136delCAA
1 paper
NM_022145.5
p.L42F
c.126A>C
1 paper
NM_022145.5
p.K77E
c.229A>G
1 paper
NM_022145.5
p.Q75_K76del2
c.223_227del6
1 paper
NM_022145.5
p.P79delFs
c.235delG
1 paper
NM_022145.5
p.E37_C38Splc
c.111+2T>C
1 paper
NM_022145.5
p.E37*
c.109G>T
1 paper
NM_022145.5
p.E36K
c.106G>A
1 paper
NM_022145.5
p.K33_M35Fs
c.98_104delinsTCCFs
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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."