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.R420K

c.1259G>A

Surrounding Variants

1 paper

NM_006101.3

p.G434A

c.1301G>C

1 paper

NM_006101.3

p.D436A

c.1307A>C

1 paper

NM_006101.3

p.E438A

c.1313A>C

1 paper

NM_006101.3

p.A455A

c.1365T>C

1 paper

NM_006101.3

p.Q456R

c.1367A>G

2 papers

NM_006101.3

p.E487A

c.1460A>C

2 papers

NM_006101.3

p.E406*

c.1216G>T

1 paper

NM_006101.3

p.K400T

c.1199A>C

1 paper

NM_006101.3

p.A389D

c.1166C>A

1 paper

NM_006101.3

p.A364V

c.1091C>T

1 paper

NM_006101.3

p.D357A

c.1070A>C

2 papers

NM_006101.3

p.E348D

c.1044G>C