Varaico: Literature-Extracted Genetic Variants

Gene:SKA3
Variant:p.S34S

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.S34S
c.102C>T
Surrounding Variants
2 papers
NM_145061.6
p.A28V
c.83C>T
4 papers
NM_145061.6
p.R27*
c.79C>T
1 paper
NM_145061.6
p.D19_L25del0
c.55_75del21
1 paper
NM_145061.6
p.A23T
c.67G>A
1 paper
NM_145061.6
p.E21E
c.63G>A
1 paper
NM_145061.6
p.D2_P3ins7
c.6_7ins21
1 paper
NM_145061.6
p.D2insFs
c.5_6ins47
1 paper
NM_145061.6
p.M1insFs
c.2_3ins37
1 paper
NM_145061.6
p.M1_D2insFs
c.3_4ins17
1 paper
NM_145061.6
p.M1ins3
c.1_2ins9
1 paper
NM_145061.6
p.M1ins14
c.1_2ins42
1 paper
NM_145061.6
p.M1insFs
c.2_3ins13
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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."