Varaico: Literature-Extracted Genetic Variants

Gene:NDC80
Variant:p.P38P

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.P38P
c.114A>G
Surrounding Variants
1 paper
NM_006101.3
p.T39A
c.115A>G
2 papers
NM_006101.3
p.S50C
c.149C>G
1 paper
NM_006101.3
p.K53Q
c.157A>C
1 paper
NM_006101.3
p.K53R
c.158A>G
1 paper
NM_006101.3
p.S55P
c.163T>C
1 paper
NM_006101.3
p.K59Q
c.175A>C
1 paper
NM_006101.3
p.K59R
c.176A>G
1 paper
NM_006101.3
p.Q33K
c.97C>A
1 paper
NM_006101.3
p.Y30F
c.89A>T
1 paper
NM_006101.3
p.Q22P
c.65A>C
1 paper
NM_006101.3
p.R20K
c.59G>A
1 paper
NM_006101.3
p.S15T
c.43T>A
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