Varaico: Literature-Extracted Genetic Variants

Gene:SKA3
Variant:p.L374F

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
4 papers
NM_145061.6
p.L374F
c.1120C>T
Surrounding Variants
1 paper
NM_145061.6
p.L374insFs
c.1121_1122ins32
3 papers
NM_145061.6
p.L375F
c.1125A>T
3 papers
NM_145061.6
p.L375F
c.1125A>C
1 paper
NM_145061.6
p.Y378*
c.1134C>A
2 papers
NM_145061.6
p.R396M
c.1187G>T
1 paper
NM_145061.6
p.S408R
c.1222A>C
1 paper
NM_145061.6
p.S408R
c.1224C>G
1 paper
NM_145061.6
p.S408R
c.1224C>A
1 paper
NM_145061.6
p.*413insFs
c.1237_1238ins8
1 paper
NM_145061.6
p.*413Splc
c.1238+3G>A
2 papers
NM_145061.6
p.Q373_L374Splc
c.1119+1G>C
2 papers
NM_145061.6
p.T360A
c.1078A>G
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