Varaico: Literature-Extracted Genetic Variants

Gene:DSN1
Variant:p.Q342*

DSN1

20 papers

RefSeq Summary

This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression ...

Pfam Domains

MIS13aa 78–356UCSCMis12-Mtw1 protein family

Gene Aliases

HGNC Name

DSN1 component of MIS12 kinetochore complex

HGNC Previous Symbol

C20orf172

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145315.2
p.Q342*
c.1024C>T
Surrounding Variants
1 paper
NM_001145315.2
p.G351_S352insCT
c.1051_1055ins6
1 paper
NM_001145315.2
p.Q311*
c.931C>T
1 paper
NM_001145315.2
p.N280Y
c.838A>T
1 paper
NM_001145315.2
p.M257V
c.769A>G
1 paper
NM_001145315.2
p.V254L
c.760G>T
1 paper
NM_001145315.2
p.V254L
c.760G>C
1 paper
NM_001145315.2
p.G243E
c.728G>A
1 paper
NM_001145315.2
p.E238*
c.712G>T
1 paper
NM_001145315.2
p.V208_A209insFs
c.624_625insCT
1 paper
NM_001145315.2
p.A168Splc
c.503-2A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."