Varaico: Literature-Extracted Genetic Variants

Gene:SKA3
Variant:p.Q271P

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.Q271P
c.812A>C
Surrounding Variants
1 paper
NM_145061.6
p.S276fs
c.826_827fs
1 paper
NM_145061.6
p.S276insFs
c.826dupA
2 papers
NM_145061.6
p.D277insFs
c.829_830insTG
3 papers
NM_145061.6
p.T254A
c.760A>G
1 paper
NM_145061.6
p.S248Splc
c.744-4C>A
1 paper
NM_145061.6
p.T281I
c.842C>T
1 paper
NM_145061.6
p.S283F
c.848C>T
1 paper
NM_145061.6
p.P284H
c.851C>A
1 paper
NM_145061.6
p.T288A
c.862A>G
1 paper
NM_145061.6
p.P292delFs
c.875delG
1 paper
NM_145061.6
p.S302G
c.904A>G
1 paper
NM_145061.6
p.L305_V306insFs
c.915_916ins5
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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."