Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.P212L

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.P212L
c.635C>T
Surrounding Variants
1 paper
NM_006185.4
p.Q210H
c.630G>T
1 paper
NM_006185.4
p.Q210H
c.630G>C
1 paper
NM_006185.4
p.R218W
c.652C>T
1 paper
NM_006185.4
p.M205L
c.613A>T
1 paper
NM_006185.4
p.M205V
c.613A>G
1 paper
NM_006185.4
p.M205L
c.613A>C
1 paper
NM_006185.4
p.R241L
c.722G>T
4 papers
NM_006185.4
p.K242R
c.725A>G
1 paper
NM_006185.4
p.K242T
c.725A>C
1 paper
NM_006185.4
p.L243L
c.729C>T
1 paper
NM_006185.4
p.L244P
c.731T>C
1 paper
NM_006185.4
p.E246*
c.736G>T
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