Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.K1078fs

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.K1078fs
c.3232_3233fs
Surrounding Variants
1 paper
NM_006185.4
p.E1079G
c.3236A>G
1 paper
NM_006185.4
p.K1088N
c.3264G>T
1 paper
NM_006185.4
p.K1088N
c.3264G>C
1 paper
NM_006185.4
p.A1095V
c.3284C>T
1 paper
NM_006185.4
p.A1102V
c.3305C>T
1 paper
NM_006185.4
p.E1050K
c.3148G>A
1 paper
NM_006185.4
p.E1110D
c.3330G>T
1 paper
NM_006185.4
p.E1110D
c.3330G>C
1 paper
NM_006185.4
p.R1114S
c.3342G>T
1 paper
NM_006185.4
p.R1114S
c.3342G>C
1 paper
NM_006185.4
p.P1117L
c.3350C>T
1 paper
NM_006185.4
p.P1117Q
c.3350C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."