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

3 papers

NM_006101.3

p.A605P

c.1813G>C

Surrounding Variants

2 papers

NM_006101.3

p.L600F

c.1798C>T

1 paper

NM_006101.3

p.E612*

c.1834G>T

1 paper

NM_006101.3

p.D618del1

c.1852_1853delGAT

1 paper

NM_006101.3

p.D618delFs

c.1853_1854delAT

1 paper

NM_006101.3

p.D618_L619delFs

c.1854_1855delTC

1 paper

NM_006101.3

p.L619I

c.1855C>A

1 paper

NM_006101.3

p.S620fs

c.1858_1859fs

2 papers

NM_006101.3

p.I626N

c.1877T>A

1 paper

NM_006101.3

p.A634V

c.1901C>T

1 paper

NM_006101.3

p.H592Q

c.1776T>A

1 paper

NM_006101.3

p.H592Q

c.1776T>G

1 paper

NM_006101.3

p.R576*

c.1726C>T