Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.E1479Q

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.E1479Q
c.4435G>C
Surrounding Variants
1 paper
NM_006185.4
p.A1481P
c.4441G>C
1 paper
NM_006185.4
p.R1473Q
c.4418G>A
1 paper
NM_006185.4
p.R1490P
c.4469G>C
1 paper
NM_006185.4
p.E1497V
c.4490A>T
1 paper
NM_006185.4
p.E1497delFs
c.4491delT
1 paper
NM_006185.4
p.L1460I
c.4378C>A
1 paper
NM_006185.4
p.S1500N
c.4499G>A
1 paper
NM_006185.4
p.A1502D
c.4505C>A
1 paper
NM_006185.4
p.R1452Q
c.4355G>A
1 paper
NM_006185.4
p.R1452W
c.4354C>T
1 paper
NM_006185.4
p.A1510T
c.4528G>A
1 paper
NM_006185.4
p.L1446M
c.4336C>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."