Varaico: Literature-Extracted Genetic Variants

Gene:CENPK
Variant:p.D121V

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
1 paper
NM_022145.5
p.D121V
c.362A>T
Surrounding Variants
1 paper
NM_022145.5
p.L122I
c.364T>A
1 paper
NM_022145.5
p.R124Splc
c.371+2T>C
1 paper
NM_022145.5
p.R124delFs
c.371delC
1 paper
NM_022145.5
p.L108L
c.324G>A
1 paper
NM_022145.5
p.E105_M106delFs
c.315_318del4
1 paper
NM_022145.5
p.L104P
c.311T>C
1 paper
NM_022145.5
p.D103A
c.308A>C
1 paper
NM_022145.5
p.R124Splc
c.372-1G>A
1 paper
NM_022145.5
p.L129L
c.385T>C
1 paper
NM_022145.5
p.Q134_M136del3
c.400_407del9
1 paper
NM_022145.5
p.V150_F153del4
c.448_458del12
1 paper
NM_022145.5
p.S156A
c.466T>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."