Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.D1144E

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.D1144E
c.3432C>A
Surrounding Variants
1 paper
NM_006185.4
p.D1144E
c.3432C>G
1 paper
NM_006185.4
p.E1151K
c.3451G>A
3 papers
NM_006185.4
p.Q1135H
c.3405A>T
3 papers
NM_006185.4
p.Q1135H
c.3405A>C
3 papers
NM_006185.4
p.R1154W
c.3460C>T
1 paper
NM_006185.4
p.R1157Q
c.3470G>A
1 paper
NM_006185.4
p.R1160Q
c.3479G>A
1 paper
NM_006185.4
p.A1127G
c.3380C>G
1 paper
NM_006185.4
p.L1167fs
c.3499_3500fs
1 paper
NM_006185.4
p.L1167delFs
c.3499_3500delAG
1 paper
NM_006185.4
p.G1169C
c.3505G>T
1 paper
NM_006185.4
p.G1169D
c.3506G>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."