Varaico: Literature-Extracted Genetic Variants

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.V342fs

c.1024_1025fs

Surrounding Variants

1 paper

NM_025082.4

p.V344fs

c.1030_1031fs

1 paper

NM_025082.4

p.E346A

c.1037A>C

1 paper

NM_025082.4

p.K336fs

c.1006_1007fs

1 paper

NM_025082.4

p.K336delFs

c.1007delT

1 paper

NM_025082.4

p.G381R

c.1141G>C

1 paper

NM_025082.4

p.G381R

c.1141G>A

1 paper

NM_025082.4

p.G383E

c.1148G>A

1 paper

NM_025082.4

p.L296L

c.888G>A

2 papers

NM_025082.4

p.S288C

c.862A>T

1 paper

NM_025082.4

p.A396Splc

c.1186+1G>A

1 paper

NM_025082.4

p.E399K

c.1195G>A

1 paper

NM_025082.4

p.A401D

c.1202C>A