Varaico: Literature-Extracted Genetic Variants

Gene:SKA3
Variant:p.D335E

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.D335E
c.1005C>A
Surrounding Variants
4 papers
NM_145061.6
p.D335E
c.1005C>G
1 paper
NM_145061.6
p.S334P
c.1000T>C
1 paper
NM_145061.6
p.L330_V331ins5
c.988_992ins15
1 paper
NM_145061.6
p.R327H
c.980G>A
1 paper
NM_145061.6
p.P347A
c.1039C>G
2 papers
NM_145061.6
p.T348M
c.1043C>T
2 papers
NM_145061.6
p.T358A
c.1072A>G
2 papers
NM_145061.6
p.T360A
c.1078A>G
1 paper
NM_145061.6
p.V306insFs
c.917_918ins5
1 paper
NM_145061.6
p.V306fs
c.916_917fs
1 paper
NM_145061.6
p.V306insFs
c.916_917ins43
1 paper
NM_145061.6
p.V306insFs
c.916_917ins5
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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."