Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.N265S

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
9 papers
NM_006185.4
p.N265S
c.794A>G
Surrounding Variants
1 paper
NM_006185.4
p.N265K
c.795T>G
1 paper
NM_006185.4
p.N265K
c.795T>A
1 paper
NM_006185.4
p.A262V
c.785C>T
1 paper
NM_006185.4
p.A270insFs
c.810dupC
1 paper
NM_006185.4
p.S271N
c.812G>A
1 paper
NM_006185.4
p.I258T
c.773T>C
1 paper
NM_006185.4
p.P272P
c.816A>G
1 paper
NM_006185.4
p.R257C
c.769C>T
1 paper
NM_006185.4
p.P275P
c.825C>T
1 paper
NM_006185.4
p.R282C
c.844C>T
1 paper
NM_006185.4
p.R282L
c.845G>T
1 paper
NM_006185.4
p.D248G
c.743A>G
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