Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.T345S

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.T345S
c.1033A>T
Surrounding Variants
4 papers
NM_006185.4
p.L344V
c.1030C>G
1 paper
NM_006185.4
p.E346V
c.1037A>T
1 paper
NM_006185.4
p.Q338P
c.1013A>C
1 paper
NM_006185.4
p.Q353fs
c.1057_1058fs
1 paper
NM_006185.4
p.Q335fs
c.1003_1004fs
1 paper
NM_006185.4
p.Q335Fs
c.1003delinsGAFs
1 paper
NM_006185.4
p.R328W
c.982C>T
1 paper
NM_006185.4
p.S367N
c.1100G>A
1 paper
NM_006185.4
p.K373N
c.1119G>C
1 paper
NM_006185.4
p.S324F
c.971C>T
1 paper
NM_006185.4
p.Q300L
c.899A>T
1 paper
NM_006185.4
p.R282L
c.845G>T
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