Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.R734_C735delFs

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.R734_C735delFs
c.2200_2203del4
Surrounding Variants
1 paper
NM_006185.4
p.R744Q
c.2231G>A
1 paper
NM_006185.4
p.A725G
c.2174C>G
1 paper
NM_006185.4
p.E753G
c.2258A>G
1 paper
NM_006185.4
p.E756*
c.2266G>T
1 paper
NM_006185.4
p.L711S
c.2132T>C
1 paper
NM_006185.4
p.L767M
c.2299C>A
1 paper
NM_006185.4
p.E702D
c.2106G>T
1 paper
NM_006185.4
p.E702D
c.2106G>C
1 paper
NM_006185.4
p.Q701L
c.2102A>T
1 paper
NM_006185.4
p.T688T
c.2064T>G
1 paper
NM_006185.4
p.R786W
c.2356C>T
1 paper
NM_006185.4
p.Q684L
c.2051A>T
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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."