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

1 paper

NM_001812.4

p.D306A

c.917A>C

Surrounding Variants

1 paper

NM_001812.4

p.E302A

c.905A>C

1 paper

NM_001812.4

p.E302*

c.904G>T

1 paper

NM_001812.4

p.L327_K328insC

c.979_983ins3

1 paper

NM_001812.4

p.K328K

c.984A>G

4 papers

NM_001812.4

p.L341F

c.1021C>T

1 paper

NM_001812.4

p.K345_S346insFs

c.1035_1036insA

1 paper

NM_001812.4

p.I353L

c.1057A>T

1 paper

NM_001812.4

p.I353L

c.1057A>C

1 paper

NM_001812.4

p.A359insFs

c.1076_1077insC

1 paper

NM_001812.4

p.D382G

c.1145A>G

1 paper

NM_001812.4

p.G389D

c.1166G>A

1 paper

NM_001812.4

p.K414insFs

c.1240_1241ins20