Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.L1395fs

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.L1395fs
c.4183_4184fs
Surrounding Variants
1 paper
NM_006185.4
p.G1394delFs
c.4182delT
1 paper
NM_006185.4
p.A1392V
c.4175C>T
1 paper
NM_006185.4
p.L1400P
c.4199T>C
3 papers
NM_006185.4
p.Q1387E
c.4159C>G
1 paper
NM_006185.4
p.R1404W
c.4210C>T
1 paper
NM_006185.4
p.R1382S
c.4144C>A
1 paper
NM_006185.4
p.R1380C
c.4138C>T
1 paper
NM_006185.4
p.P1411H
c.4232C>A
1 paper
NM_006185.4
p.L1412V
c.4234C>G
1 paper
NM_006185.4
p.A1377A
c.4131C>A
1 paper
NM_006185.4
p.R1413W
c.4237C>T
1 paper
NM_006185.4
p.Q1414H
c.4242G>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."