Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.I859V

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
Selected Variant
1 paper
NM_006185.4
p.I859V
c.2575A>G
Surrounding Variants
1 paper
NM_006185.4
p.E854K
c.2560G>A
1 paper
NM_006185.4
p.S868insFs
c.2603_2604insA
1 paper
NM_006185.4
p.S868fs
c.2602_2603fs
1 paper
NM_006185.4
p.R846L
c.2537G>T
1 paper
NM_006185.4
p.Q886*
c.2656C>T
1 paper
NM_006185.4
p.Q832*
c.2494C>T
3 papers
NM_006185.4
p.A829T
c.2485G>A
1 paper
NM_006185.4
p.A899T
c.2695G>A
1 paper
NM_006185.4
p.W813R
c.2437T>C
1 paper
NM_006185.4
p.W813R
c.2437T>A
4 papers
NM_006185.4
p.E809D
c.2427A>T
4 papers
NM_006185.4
p.E809D
c.2427A>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."