Varaico: Literature-Extracted Genetic Variants

Gene:CENPU
Variant:p.K127E

CENPU

47 papers

RefSeq Summary

The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centro...

Pfam Domains

CENP-Uaa 144–320UCSCCENP-A nucleosome associated complex (NAC) subunit

Gene Aliases

HGNC Name

centromere protein U

HGNC Previous Symbol

MLF1IP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024629.4
p.K127E
c.379A>G
Surrounding Variants
1 paper
NM_024629.4
p.K131delFs
c.391_392delTT
1 paper
NM_024629.4
p.R166*
c.496C>T
1 paper
NM_024629.4
p.A169A
c.507G>A
1 paper
NM_024629.4
p.S206L
c.617C>T
2 papers
NM_024629.4
p.I214M
c.642A>G
1 paper
NM_024629.4
p.S215P
c.643T>C
1 paper
NM_024629.4
p.S222L
c.665C>T
2 papers
NM_024629.4
p.S229L
c.686C>T
1 paper
NM_024629.4
p.S246T
c.737G>C
1 paper
NM_024629.4
p.S94C
c.281C>G
3 papers
NM_024629.4
p.T78A
c.232A>G
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