Varaico: Literature-Extracted Genetic Variants

Gene:NIN
Variant:p.I1430L

NIN

244 papers

RefSeq Summary

This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this ...

Pfam Domains

Ninein_midaa 292–470UCSCNinein middle domain
Ninein_long_CCaa 606–977UCSCNinein long Coiled-coil domain

Gene Aliases

HGNC Name

ninein

HGNC Previous Name

ninein (GSK3B interacting protein)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020921.4
p.I1430L
c.4288A>T
Surrounding Variants
2 papers
NM_020921.4
p.I1430L
c.4288A>C
1 paper
NM_020921.4
p.E1432D
c.4296G>T
1 paper
NM_020921.4
p.E1432D
c.4296G>C
1 paper
NM_020921.4
p.E1421delFs
c.4261delC
1 paper
NM_020921.4
p.E1421fs
c.4261_4262fs
1 paper
NM_020921.4
p.G1414V
c.4241G>T
1 paper
NM_020921.4
p.A1449S
c.4345G>T
1 paper
NM_020921.4
p.L1456M
c.4366C>A
1 paper
NM_020921.4
p.L1461V
c.4381T>G
1 paper
NM_020921.4
p.Q1389K
c.4165C>A
1 paper
NM_020921.4
p.I1474fs
c.4420_4421fs
1 paper
NM_020921.4
p.I1474delFs
c.4420_4421delAT
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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."