Varaico: Literature-Extracted Genetic Variants

Gene:SKA3
Variant:p.Q195R

SKA3

64 papers

RefSeq Summary

This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the o...

Pfam Domains

SKA3_Naa 2–35UCSCSKA3 N-terminal domain
SKA3_helicalaa 40–100UCSCSKA3 helical domain

Gene Aliases

HGNC Name

spindle and kinetochore associated complex subunit 3

HGNC Previous Symbol

C13orf3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145061.6
p.Q195R
c.584A>G
Surrounding Variants
1 paper
NM_145061.6
p.Q195*
c.583C>T
1 paper
NM_145061.6
p.V189V
c.567A>T
4 papers
NM_145061.6
p.V187I
c.559G>A
1 paper
NM_145061.6
p.M210fs
c.628_629fs
1 paper
NM_145061.6
p.R165_Y166insCG
c.493_497ins6
1 paper
NM_145061.6
p.R154H
c.461G>A
1 paper
NM_145061.6
p.R154C
c.460C>T
1 paper
NM_145061.6
p.S248Splc
c.743+1G>T
1 paper
NM_145061.6
p.E115Q
c.343G>C
1 paper
NM_145061.6
p.S110_V111insFs
c.330_331ins5
2 papers
NM_145061.6
p.R105C
c.313C>T
1 paper
NM_145061.6
p.Y96*
c.288T>A
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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."