Varaico: Literature-Extracted Genetic Variants

Gene:NSL1

NSL1

45 papers

RefSeq Summary

This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during ...

Pfam Domains

Mis14aa 82–197UCSCKinetochore protein Mis14 like

Gene Aliases

HGNC Name

NSL1 component of MIS12 kinetochore complex

HGNC Previous Symbol

C1orf48

Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
9 papers
NM_015471.4
p.M254V
c.760A>G
4 papers
NM_015471.4
p.S4F
c.11C>T
2 papers
NM_015471.4
p.G3V
c.8G>T
1 paper
NM_015471.4
p.P13S
c.37C>T
1 paper
NM_015471.4
p.E23D
c.69G>T
1 paper
NM_015471.4
p.E23D
c.69G>C
1 paper
NM_015471.4
p.Q25E
c.73C>G
1 paper
NM_015471.4
p.A26T
c.76G>A
1 paper
NM_015471.4
p.S42W
c.125C>G
1 paper
NM_015471.4
p.A63V
c.188C>T
1 paper
NM_015471.4
p.P65S
c.193C>T
1 paper
NM_015471.4
p.R74P
c.221G>C
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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."