Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1

NUMA1

226 papers

RefSeq Summary

This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mit...

Pfam Domains

HOOK_N_NuMAaa 5–154UCSCNuMA N-terminal hook domain

Gene Aliases

HGNC Name

nuclear mitotic apparatus protein 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 337 variants
11 papers
NM_006185.4
p.A794G
c.2381C>G
9 papers
NM_006185.4
p.N265S
c.794A>G
9 papers
NM_006185.4
p.Y1836H
c.5506T>C
8 papers
NM_006185.4
p.R1681C
c.5041C>T
4 papers
NM_006185.4
p.K242R
c.725A>G
4 papers
NM_006185.4
p.L344V
c.1030C>G
4 papers
NM_006185.4
p.E809D
c.2427A>T
4 papers
NM_006185.4
p.E809D
c.2427A>C
4 papers
NM_006185.4
p.R972Q
c.2915G>A
3 papers
NM_006185.4
p.A829T
c.2485G>A
3 papers
NM_006185.4
p.Q1135H
c.3405A>T
3 papers
NM_006185.4
p.Q1135H
c.3405A>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."