Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.A614P

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.A614P
c.1840G>C
Surrounding Variants
1 paper
NM_006185.4
p.K611*
c.1831A>T
1 paper
NM_006185.4
p.A586T
c.1756G>A
1 paper
NM_006185.4
p.Q642*
c.1924C>T
1 paper
NM_006185.4
p.R643W
c.1927C>T
1 paper
NM_006185.4
p.R650W
c.1948C>T
1 paper
NM_006185.4
p.K651N
c.1953G>T
1 paper
NM_006185.4
p.K651N
c.1953G>C
1 paper
NM_006185.4
p.R663C
c.1987C>T
1 paper
NM_006185.4
p.K561N
c.1683G>T
1 paper
NM_006185.4
p.K561N
c.1683G>C
1 paper
NM_006185.4
p.A671V
c.2012C>T
1 paper
NM_006185.4
p.L556Q
c.1667T>A
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