Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.R924C

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.R924C
c.2770C>T
Surrounding Variants
2 papers
NM_006185.4
p.R918C
c.2752C>T
1 paper
NM_006185.4
p.A899T
c.2695G>A
1 paper
NM_006185.4
p.W951_L952del1
c.2853_2855delAGC
1 paper
NM_006185.4
p.Q886*
c.2656C>T
1 paper
NM_006185.4
p.Q964*
c.2890C>T
4 papers
NM_006185.4
p.R972Q
c.2915G>A
1 paper
NM_006185.4
p.M977L
c.2929A>T
1 paper
NM_006185.4
p.M977L
c.2929A>C
1 paper
NM_006185.4
p.G978S
c.2932G>A
1 paper
NM_006185.4
p.S868fs
c.2602_2603fs
1 paper
NM_006185.4
p.S868insFs
c.2603_2604insA
1 paper
NM_006185.4
p.I859V
c.2575A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."