Varaico: Literature-Extracted Genetic Variants

CENPC

92 papers

RefSeq Summary

Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. ...

Pfam Domains

CENP_C_Naa 7–292UCSCKinetochore assembly subunit CENP-C N-terminal

CENP-C_midaa 296–552UCSCCentromere assembly component CENP-C middle DNMT3B-binding region

CENP-C_Caa 856–940UCSCMif2/CENP-C like

Gene Aliases

HGNC Name

centromere protein C

HGNC Previous Symbol

CENPC1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 63 variants

4 papers

NM_001812.4

p.L341F

c.1021C>T

2 papers

NM_001812.4

p.R206fs

c.616_617fs

2 papers

NM_001812.4

p.R206delFs

c.616delT

1 paper

NM_001812.4

p.Q39*

c.115C>T

1 paper

NM_001812.4

p.S62A

c.184T>G

1 paper

NM_001812.4

p.I66delFs

c.196delT

1 paper

NM_001812.4

p.I66fs

c.196_197fs

1 paper

NM_001812.4

p.K76R

c.227A>G

1 paper

NM_001812.4

p.F99S

c.296T>C

1 paper

NM_001812.4

p.V101A

c.302T>C

1 paper

NM_001812.4

p.R109_S110insFs

c.327_328insC

1 paper

NM_001812.4

p.S110insFs

c.328_329insC