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.L250P

c.749T>C

Surrounding Variants

2 papers

NM_006101.3

p.S252A

c.754T>G

1 paper

NM_006101.3

p.K255N

c.765G>C

1 paper

NM_006101.3

p.K255N

c.765G>T

1 paper

NM_006101.3

p.D244E

c.732T>A

1 paper

NM_006101.3

p.D244E

c.732T>G

1 paper

NM_006101.3

p.V260M

c.778G>A

1 paper

NM_006101.3

p.A270T

c.808G>A

2 papers

NM_006101.3

p.E277V

c.830A>T

1 paper

NM_006101.3

p.E287*

c.859G>T

2 papers

NM_006101.3

p.K288E

c.862A>G

1 paper

NM_006101.3

p.R297*

c.889A>T

2 papers

NM_006101.3

p.K309R

c.926A>G