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

Selected Variant

2 papers

NM_001812.4

p.R206fs

c.616_617fs

Surrounding Variants

2 papers

NM_001812.4

p.R206delFs

c.616delT

1 paper

NM_001812.4

p.T203delins

c.608_609delinsAA

1 paper

NM_001812.4

p.S170*

c.509C>G

1 paper

NM_001812.4

p.S170*

c.509C>A

1 paper

NM_001812.4

p.L162F

c.484C>T

1 paper

NM_001812.4

p.D124V

c.371A>T

1 paper

NM_001812.4

p.I220V

c.658A>G

1 paper

NM_001812.4

p.E302*

c.904G>T

1 paper

NM_001812.4

p.E302A

c.905A>C

1 paper

NM_001812.4

p.D306A

c.917A>C

1 paper

NM_001812.4

p.L327_K328insC

c.979_983ins3

1 paper

NM_001812.4

p.K328K

c.984A>G