Varaico: Literature-Extracted Genetic Variants

NDC80

114 papers

RefSeq Summary

This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other...

Pfam Domains

Ndc80_HECaa 51–198UCSCHEC/Ndc80p family

DUF5595aa 213–285UCSCDomain of unknown function (DUF5595)

NDC80_loopaa 377–609UCSCKinetochore protein NDC80 loop region

Gene Aliases

HGNC Name

NDC80 kinetochore complex component

HGNC Previous Symbol

KNTC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006101.3

p.R20K

c.59G>A

Surrounding Variants

1 paper

NM_006101.3

p.Q22P

c.65A>C

1 paper

NM_006101.3

p.S15T

c.43T>A

2 papers

NM_006101.3

p.G12D

c.35G>A

1 paper

NM_006101.3

p.G12A

c.35G>C

2 papers

NM_006101.3

p.G12V

c.35G>T

1 paper

NM_006101.3

p.G12C

c.34G>T

1 paper

NM_006101.3

p.Y30F

c.89A>T

1 paper

NM_006101.3

p.Q33K

c.97C>A

1 paper

NM_006101.3

p.S7insFs

c.19_20insG

1 paper

NM_006101.3

p.P38P

c.114A>G

1 paper

NM_006101.3

p.T39A

c.115A>G

2 papers

NM_006101.3

p.S50C

c.149C>G