Varaico: Literature-Extracted Genetic Variants

Gene:NIN
Variant:p.E557Q

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
3 papers
NM_020921.4
p.E557Q
c.1669G>C
Surrounding Variants
1 paper
NM_020921.4
p.Q555H
c.1665G>T
1 paper
NM_020921.4
p.Q555H
c.1665G>C
1 paper
NM_020921.4
p.E559*
c.1675G>T
1 paper
NM_020921.4
p.E553K
c.1657G>A
1 paper
NM_020921.4
p.R566T
c.1697G>C
1 paper
NM_020921.4
p.E579_V580del1
c.1736_1738delCTT
1 paper
NM_020921.4
p.E579_V580del2
c.1735_1739del6
1 paper
NM_020921.4
p.G585S
c.1753G>A
1 paper
NM_020921.4
p.P589S
c.1765C>T
1 paper
NM_020921.4
p.G592Splc
c.1774+6C>T
1 paper
NM_020921.4
p.N599K
c.1797T>G
1 paper
NM_020921.4
p.N599K
c.1797T>A
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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."