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

1–12 of 95 variants

3 papers

NM_006101.3

p.A605P

c.1813G>C

2 papers

NM_006101.3

p.G12D

c.35G>A

2 papers

NM_006101.3

p.G12V

c.35G>T

2 papers

NM_006101.3

p.S50C

c.149C>G

2 papers

NM_006101.3

p.S165A

c.493T>G

2 papers

NM_006101.3

p.K166E

c.496A>G

2 papers

NM_006101.3

p.S202L

c.605C>T

2 papers

NM_006101.3

p.S252A

c.754T>G

2 papers

NM_006101.3

p.E277V

c.830A>T

2 papers

NM_006101.3

p.K288E

c.862A>G

2 papers

NM_006101.3

p.K309R

c.926A>G

2 papers

NM_006101.3

p.E348D

c.1044G>C