Varaico: Literature-Extracted Genetic Variants

Gene:CENPT
Variant:p.K511R

CENPT

50 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-T_Naa 1–415UCSCCentromere kinetochore component CENP-T N-terminus
CENP-T_Caa 450–553UCSCCentromere kinetochore component CENP-T histone fold

Gene Aliases

HGNC Name

centromere protein T

HGNC Previous Symbol

C16orf56

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025082.4
p.K511R
c.1532A>G
Surrounding Variants
1 paper
NM_025082.4
p.D514N
c.1540G>A
2 papers
NM_025082.4
p.R507C
c.1519C>T
1 paper
NM_025082.4
p.R521Q
c.1562G>A
1 paper
NM_025082.4
p.R521Q
c.1562G>A
1 paper
NM_025082.4
p.L531V
c.1591C>G
1 paper
NM_025082.4
p.L480L
c.1440T>G
1 paper
NM_025082.4
p.Y552C
c.1655A>G
1 paper
NM_025082.4
p.F467C
c.1400T>G
1 paper
NM_025082.4
p.H456R
c.1367A>G
1 paper
NM_025082.4
p.R445L
c.1334G>T
1 paper
NM_025082.4
p.P442L
c.1325C>T
2 papers
NM_025082.4
p.P441A
c.1321C>G
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