Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.R1881H

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.R1881H
c.5642G>A
Surrounding Variants
1 paper
NM_006185.4
p.R1886H
c.5657G>A
1 paper
NM_006185.4
p.R1886_S1887ins5
c.5658_5659ins15
1 paper
NM_006185.4
p.Q1888H
c.5664G>T
1 paper
NM_006185.4
p.Q1888H
c.5664G>C
1 paper
NM_006185.4
p.L1873S
c.5618T>C
1 paper
NM_006185.4
p.P1863T
c.5587C>A
1 paper
NM_006185.4
p.T1851A
c.5551A>G
1 paper
NM_006185.4
p.S1844A
c.5530T>G
1 paper
NM_006185.4
p.T1838M
c.5513C>T
9 papers
NM_006185.4
p.Y1836H
c.5506T>C
1 paper
NM_006185.4
p.S1834L
c.5501C>T
1 paper
NM_006185.4
p.A1831T
c.5491G>A
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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."