Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.A1319V

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.A1319V
c.3956C>T
Surrounding Variants
1 paper
NM_006185.4
p.L1315V
c.3943C>G
1 paper
NM_006185.4
p.R1312G
c.3934C>G
1 paper
NM_006185.4
p.E1302K
c.3904G>A
1 paper
NM_006185.4
p.S1344F
c.4031C>T
1 paper
NM_006185.4
p.L1346M
c.4036C>A
1 paper
NM_006185.4
p.Q1347*
c.4039C>T
1 paper
NM_006185.4
p.R1286H
c.3857G>A
1 paper
NM_006185.4
p.T1353K
c.4058C>A
1 paper
NM_006185.4
p.R1282S
c.3846A>T
1 paper
NM_006185.4
p.R1282S
c.3846A>C
1 paper
NM_006185.4
p.L1366_C1367delFs
c.4098_4099delAG
1 paper
NM_006185.4
p.C1367fs
c.4099_4100fs
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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."