Varaico: Literature-Extracted Genetic Variants

Gene:SKA3
Variant:p.Q70fs

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.Q70fs
c.208_209fs
Surrounding Variants
4 papers
NM_145061.6
p.Q70delFs
c.208delG
4 papers
NM_145061.6
p.Q70fs
c.208_209fs
1 paper
NM_145061.6
p.E71Q
c.211G>C
2 papers
NM_145061.6
p.V58I
c.172G>A
1 paper
NM_145061.6
p.D56fs
c.166_167fs
1 paper
NM_145061.6
p.Y96*
c.288T>A
2 papers
NM_145061.6
p.R105C
c.313C>T
1 paper
NM_145061.6
p.S110_V111insFs
c.330_331ins5
1 paper
NM_145061.6
p.K55_D56insFs
c.165_166insCG
1 paper
NM_145061.6
p.L47F
c.139C>T
1 paper
NM_145061.6
p.S34S
c.102C>T
2 papers
NM_145061.6
p.A28V
c.83C>T
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