Varaico: Literature-Extracted Genetic Variants

Gene:CENPT
Variant:p.R122G

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
2 papers
NM_025082.4
p.R122G
c.364A>G
Surrounding Variants
1 paper
NM_025082.4
p.S121Y
c.362C>A
1 paper
NM_025082.4
p.S121A
c.361T>G
1 paper
NM_025082.4
p.A117_E124del8
c.349_371del24
1 paper
NM_025082.4
p.S126N
c.377G>A
1 paper
NM_025082.4
p.P115Q
c.344C>A
1 paper
NM_025082.4
p.P113T
c.337C>A
1 paper
NM_025082.4
p.S107A
c.319T>G
1 paper
NM_025082.4
p.E106K
c.316G>A
1 paper
NM_025082.4
p.P135L
c.404C>T
1 paper
NM_025082.4
p.A149S
c.445G>T
2 papers
NM_025082.4
p.I93V
c.277A>G
2 papers
NM_025082.4
p.K91R
c.272A>G
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