Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.L1167delFs

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.L1167delFs
c.3499_3500delAG
Surrounding Variants
1 paper
NM_006185.4
p.L1167fs
c.3499_3500fs
1 paper
NM_006185.4
p.G1169C
c.3505G>T
1 paper
NM_006185.4
p.G1169D
c.3506G>A
1 paper
NM_006185.4
p.L1171fs
c.3511_3512fs
1 paper
NM_006185.4
p.L1171_E1172delFs
c.3511_3514del4
1 paper
NM_006185.4
p.R1160Q
c.3479G>A
1 paper
NM_006185.4
p.R1157Q
c.3470G>A
1 paper
NM_006185.4
p.L1178L
c.3534A>G
3 papers
NM_006185.4
p.R1154W
c.3460C>T
1 paper
NM_006185.4
p.E1151K
c.3451G>A
1 paper
NM_006185.4
p.R1190W
c.3568C>T
1 paper
NM_006185.4
p.D1144E
c.3432C>G
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