Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.G978S

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.G978S
c.2932G>A
Surrounding Variants
1 paper
NM_006185.4
p.M977L
c.2929A>T
1 paper
NM_006185.4
p.M977L
c.2929A>C
4 papers
NM_006185.4
p.R972Q
c.2915G>A
1 paper
NM_006185.4
p.Q964*
c.2890C>T
1 paper
NM_006185.4
p.G993E
c.2978G>A
1 paper
NM_006185.4
p.Q996*
c.2986C>T
1 paper
NM_006185.4
p.R999C
c.2995C>T
1 paper
NM_006185.4
p.W951_L952del1
c.2853_2855delAGC
2 papers
NM_006185.4
p.T1010N
c.3029C>A
1 paper
NM_006185.4
p.E1029E
c.3087G>A
1 paper
NM_006185.4
p.R924C
c.2770C>T
1 paper
NM_006185.4
p.A1037T
c.3109G>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."