Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.R495Q

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.R495Q
c.1484G>A
Surrounding Variants
1 paper
NM_006185.4
p.L496V
c.1486T>G
1 paper
NM_006185.4
p.Q499delFs
c.1495delG
1 paper
NM_006185.4
p.Q499fs
c.1495_1496fs
1 paper
NM_006185.4
p.A501A
c.1503C>T
1 paper
NM_006185.4
p.T504S
c.1510A>T
2 papers
NM_006185.4
p.N477S
c.1430A>G
1 paper
NM_006185.4
p.R454W
c.1360C>T
1 paper
NM_006185.4
p.R443Q
c.1328G>A
1 paper
NM_006185.4
p.R550C
c.1648C>T
1 paper
NM_006185.4
p.M438I
c.1314G>A
1 paper
NM_006185.4
p.L556Q
c.1667T>A
1 paper
NM_006185.4
p.K561N
c.1683G>T
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