Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.R786W

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.R786W
c.2356C>T
Surrounding Variants
11 papers
NM_006185.4
p.A794G
c.2381C>G
1 paper
NM_006185.4
p.S801N
c.2402G>A
1 paper
NM_006185.4
p.L767M
c.2299C>A
4 papers
NM_006185.4
p.E809D
c.2427A>T
4 papers
NM_006185.4
p.E809D
c.2427A>C
1 paper
NM_006185.4
p.W813R
c.2437T>C
1 paper
NM_006185.4
p.W813R
c.2437T>A
1 paper
NM_006185.4
p.E756*
c.2266G>T
1 paper
NM_006185.4
p.E753G
c.2258A>G
1 paper
NM_006185.4
p.R744Q
c.2231G>A
3 papers
NM_006185.4
p.A829T
c.2485G>A
1 paper
NM_006185.4
p.Q832*
c.2494C>T
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